A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670481



Internal ID9936586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54342407..54344599hg38UCSC Ensembl
chr18:51868777..51870969hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382193
hg192193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5958815, essv6295971, essv5652170, essv6428624, essv6466028, essv5458097, essv5551691, essv6407894, essv6535255, essv5444266, essv5987813, essv6537493, essv6402007, essv6535594, essv5862570, essv5596946, essv6061074, essv6247911, essv6145520, essv5546171, essv5493110, essv6053106, essv6522008, essv5587525, essv5958974, essv6126231, essv6419300, essv5710854, essv5937230, essv5699681, essv5824819, essv5397637, essv6400096, essv5632155, essv5807786, essv6036795, essv5461558, essv6306159, essv5896671, essv5632031, essv6283758, essv5971300, essv6287574, essv6035782, essv6346517, essv6491773, essv5980902, essv5997941, essv5876402, essv6541797, essv5839613, essv6422725, essv5413275, essv6031076, essv6361675, essv6566598, essv6242112, essv5517444, essv5907799, essv6352159, essv6071842, essv5941891, essv5411338, essv6340673, essv6420990, essv6266084, essv5952309, essv6096544, essv6282925, essv5874095, essv5991728, essv6580554, essv6438462, essv5506184, essv6565369, essv6001657, essv5966133, essv6123197, essv6015260, essv5862857, essv5587608, essv5988284, essv6138490, essv6157991, essv6528629, essv6052365, essv6237513, essv6037683, essv6205603, essv6047340, essv5790425, essv6283500, essv5915944, essv5656783, essv5830841, essv6542033, essv5751931, essv5652421, essv6244974, essv5579664, essv6537545, essv6057184, essv6369926, essv6543706, essv5398569, essv6160075, essv5574657, essv6355588, essv5989317
SamplesNA20529, NA18947, NA19466, HG00361, NA18508, NA19914, NA12414, NA11920, HG00315, NA20752, HG00244, NA18486, HG00177, HG00150, NA20507, NA19443, NA12813, NA18967, HG00641, NA19746, NA19381, NA19171, HG00122, NA18489, HG01167, NA18923, NA19198, NA20317, NA12891, NA18558, NA18916, HG00247, HG00334, HG00451, HG01069, NA06984, HG01170, HG00325, NA19137, HG01072, HG00232, NA19371, NA11994, NA19901, NA19725, NA18520, HG00159, HG00323, NA19200, HG00264, NA19247, NA19152, HG01095, HG01515, NA19236, NA18516, HG00263, NA18976, NA18630, HG00250, NA20538, NA12249, HG01101, NA20282, HG01334, NA19257, NA19452, NA19225, NA12144, NA18523, NA19395, NA20542, HG01107, NA18945, NA18953, HG00258, NA20799, HG00124, NA12716, HG00119, NA18909, HG00336, NA19108, NA19147, NA19747, HG00366, NA20815, HG01551, HG00638, NA19444, NA19835, NA19439, NA19470, NA19360, NA12763, HG01342, NA20341, NA06994, NA18971, HG01491, HG00259, HG00123, NA20528, NA19900, NA18505, NA19129, NA20754, NA19429, NA20509
Known GenesSTARD6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670481
Frequency
Sample Size1151
Observed Gain0
Observed Loss109
Observed Complex0
Frequencyn/a


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