A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665318



Internal ID9931423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16031321..16035627hg38UCSC Ensembl
Outerchr1:16030950..16035997hg38UCSC Ensembl
Innerchr1:16357816..16362122hg19UCSC Ensembl
Outerchr1:16357445..16362492hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg385048
hg195048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5937904, essv6264913, essv5689713, essv6565313, essv6444250, essv6260115, essv5893680, essv5524902, essv5986462, essv5778558, essv5813713, essv6116357, essv5970021, essv5483132, essv5959997, essv5595661, essv5671555, essv5721884, essv6577191, essv5957745, essv6300428, essv6096342, essv5620722, essv5422545, essv6292749, essv6048525, essv6065374, essv5868906, essv6112083, essv5728168, essv6155862, essv6458525, essv6079824, essv6564723, essv6510317, essv6139055, essv5429090, essv5620482, essv6514405, essv5957852, essv5761570, essv6274071, essv5548759, essv6126669, essv5907875, essv6378765, essv5907250, essv5721139, essv6137777, essv5559776, essv6206665, essv6340268, essv6357323, essv6035088, essv5800906, essv5484840, essv5994393, essv6282724, essv6443514, essv5832972, essv5477532, essv5738567, essv6423982
SamplesHG00626, HG00542, HG00442, HG00608, HG00559, HG00524, HG00699, HG00566, HG00449, HG00654, HG00663, HG00501, HG00689, HG00448, HG00634, HG00610, HG00590, HG00512, HG00427, HG00530, HG00464, HG00543, HG00560, HG00629, HG00596, HG00557, HG00428, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00690, HG00404, HG00684, HG00525, HG00704, HG00611, HG00476, HG00565, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00672, HG00513, HG00578, HG00478, HG00698, HG00595, HG00472, HG00628, HG00581
Known GenesCLCNKA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665318
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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