A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675551



Internal ID9941656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16040159..16062671hg38UCSC Ensembl
chr1:16366654..16389166hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3822513
hg1922513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20e199
Supporting Variantsessv6553702, essv6550329, essv6215169, essv5942120, essv6235506, essv5914187, essv6035754, essv5523106, essv6125557, essv5455116, essv6199405, essv5787750, essv5545778, essv6477054, essv6170282, essv5799794, essv5873340, essv6072106, essv6476031, essv5899645, essv5800364, essv5505276, essv6347929, essv6383464, essv6586373, essv6214656, essv5459754, essv5460289, essv6356749, essv6292348, essv6053760, essv6316992, essv6085774, essv5654467, essv5646948
SamplesNA20761, HG01066, NA19819, HG01456, NA18988, NA18567, NA18960, HG00311, HG01455, NA20278, NA19235, NA19002, NA20533, NA20818, NA18614, HG00149, NA19070, NA20809, NA20314, NA20770, NA19064, HG00740, NA19774, NA20522, NA19747, NA20804, NA19010, HG01494, NA19786, NA19248, NA20807, HG00595, NA19004, NA18488, NA11832
Known GenesCLCNKB, FAM131C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675551
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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