A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674182



Internal ID9593601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125426616..125426619hg38UCSC Ensembl
Outerchr11:125426462..125426769hg38UCSC Ensembl
Innerchr11:125296515..125296512hg19UCSC Ensembl
Outerchr11:125296358..125296665hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5431974, essv6030793, essv5650421, essv6417227, essv6085733, essv6073404, essv5852441, essv5846986, essv5493860, essv5966456, essv6177349, essv5701458, essv6278584, essv6598097, essv5761781, essv5866072, essv5589793, essv6556747, essv5625529, essv5411870, essv6262252, essv6010774, essv5673197, essv5525242, essv6257712, essv5427935, essv5466418, essv5675240, essv6279123, essv5625628, essv6500629, essv5733994, essv5555579, essv5831341, essv5831632, essv6232146, essv5814290, essv5603566, essv5809769, essv5491915, essv6059674, essv5782683, essv6495957, essv5843266, essv5663403, essv5668387, essv5492798, essv5632103, essv6431209, essv6433822, essv6261387, essv5651990, essv5555911, essv5632588, essv6093236, essv6102365, essv5891691, essv6594180, essv5717849, essv6063451, essv5516661, essv6319303, essv5679893, essv5629313, essv6279895, essv5811482, essv5994487, essv5700655, essv5684582, essv5679676, essv5956098, essv6144437, essv5786104, essv5660583, essv6205906, essv6230784, essv6235654, essv5845026, essv6130277, essv5418810, essv6197727, essv6339039, essv5658345, essv6001387, essv6586032, essv5649594, essv5930630, essv5696755, essv6299970, essv6575543, essv6125700, essv5657396, essv5818984, essv6560078, essv5429354, essv6459796, essv6378586, essv6548435, essv5778626, essv6063577, essv6519060, essv6186064, essv5603570, essv5988907, essv5398128, essv6499208, essv5778040, essv6449694, essv5763057, essv6514392, essv5699515, essv6437511, essv6314814, essv5788391, essv5832650, essv5847206, essv6267151, essv6327341, essv5903795, essv6153171, essv5515172, essv6134380, essv5987912, essv5919892, essv5665150, essv5866717, essv6334720, essv6378420, essv6579185, essv5733773, essv5721769, essv5825507, essv6163769, essv6128505, essv5979454, essv6041997, essv5538522, essv6526133, essv5467073, essv5433893, essv6284388, essv6529743, essv5602718
SamplesHG01060, HG00442, HG01173, HG00536, HG00608, NA18621, HG00671, HG00524, HG01052, HG01079, NA11933, HG00257, HG01389, HG01374, HG00315, HG00699, NA12004, HG00449, HG01051, HG00693, HG00337, HG00327, HG00271, HG00663, HG01350, NA18550, HG01070, HG00501, HG00702, HG00689, HG00346, HG01083, NA19138, HG00369, HG01365, HG00334, HG00537, HG00590, NA18611, NA19404, HG00139, HG01080, HG01067, HG00683, HG00335, HG01072, HG00232, HG00422, HG00705, HG01440, HG00427, HG00338, HG01133, HG00326, HG00419, HG00253, HG00108, HG00260, HG01353, HG00543, HG00137, HG01136, HG00154, NA18613, HG00443, HG00268, HG01187, HG01171, HG00557, HG00328, NA12003, HG00653, HG00475, HG00436, HG00320, HG00584, HG00533, HG00344, NA18637, HG00263, NA18572, NA18534, HG00619, HG00708, HG00692, HG01047, HG00284, HG01073, HG00273, HG00479, NA18499, NA18532, HG00525, HG00321, NA12827, HG00276, HG00704, HG00463, NA18570, HG01107, NA19436, NA18576, NA18608, NA18542, NA20801, HG00336, HG00285, NA18543, NA18559, HG00580, HG00375, HG00136, NA07051, HG01357, HG01375, HG00473, HG00237, HG00319, HG00662, HG00418, NA18610, NA19759, HG00672, HG00111, HG00478, HG00421, HG00656, NA18636, NA12830, HG00310, HG00280, HG00343, NA20528, HG00274, HG01377, HG00472, HG01378, NA18624, HG00345, NA18623, NA18612, HG01437, NA18562
Known GenesPKNOX2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674182
Frequency
Sample Size1151
Observed Gain0
Observed Loss143
Observed Complex0
Frequencyn/a


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