A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656939



Internal ID9923044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44016273..44025188hg38UCSC Ensembl
chr4:44018290..44027205hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg388916
hg198916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv938e199
Supporting Variantsessv5496562, essv5654803, essv5846463, essv6296444, essv5780365, essv6076423, essv5790226, essv5913464, essv5599758, essv5869809, essv5553069, essv5794641, essv6375125, essv5732853, essv6404045, essv5730945, essv6423691, essv5794643, essv6519247, essv5648010, essv6262055, essv6109177, essv5640477, essv5747978, essv5644215, essv5463433, essv5676917, essv6437596, essv5881691, essv6154888, essv6133996, essv5566647, essv5674884, essv5590163, essv5725592, essv6166033
SamplesNA19700, NA19819, NA20346, NA18870, NA19446, NA19315, HG01083, NA19383, NA19137, NA20127, NA19210, NA19437, HG01171, NA19462, HG01095, NA19391, NA19327, NA20126, NA19114, NA18853, NA19099, NA19452, NA19318, NA19321, NA19256, NA19473, HG01253, NA19380, NA19360, NA19818, NA19468, NA19102, NA19711, NA19900, NA19430, NA20322
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656939
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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