A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670255



Internal ID9589674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12380178..12380802hg38UCSC Ensembl
chr11:12401725..12402349hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5715118, essv5406298, essv6374115, essv6125921, essv5993382, essv6351266, essv5931046, essv6461238, essv6079975, essv6097705, essv5587889, essv6059704, essv5770938, essv5675250, essv5790909, essv5914241, essv5490390, essv6347871, essv6040576, essv6112591, essv5700992, essv5827550, essv6243804, essv6280103, essv5697901, essv6254822, essv6119608, essv6279239, essv5496705, essv5908318, essv5634251, essv6341477, essv6406504, essv6275122, essv6001954, essv5612217, essv6190143, essv6394309, essv5909285, essv5752443, essv6490687, essv6101116, essv5576037, essv5506222, essv5975396, essv6146862, essv6433780, essv6212370, essv6366165, essv5418981, essv5864273, essv6076435, essv5804215, essv5947288, essv6368232, essv5630298, essv6090686, essv6241677, essv6287794, essv6109080, essv6531772, essv6115872, essv5510214, essv6142705, essv5968869, essv5851764, essv5897863, essv6196588, essv6193066, essv5916016, essv5967362
SamplesNA19137, NA19625, HG00182, NA20522, NA19819, HG00551, NA18523, NA18874, NA19311, NA18603, NA19670, HG01365, HG00189, HG00553, NA18489, NA18507, NA19685, HG00335, HG01134, NA19108, NA19236, NA18505, NA19467, NA19654, NA19914, NA19428, NA11919, NA19982, NA18508, NA19239, NA19917, HG00259, NA19444, NA18856, HG00315, NA19440, NA19700, NA20341, NA12006, NA19247, NA19380, NA20291, NA19703, HG00268, NA12778, NA18486, NA18522, NA19238, NA18510, NA20344, NA19901, NA18504, NA18487, HG00277, NA19332, HG01070, NA19159, NA18582, NA19391, NA20289, NA20287, NA19434, NA19818, HG01108, HG00367, NA19240, HG01102, HG01377, HG00278, NA19661, NA19456
Known GenesPARVA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670255
Frequency
Sample Size1151
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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