A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622354



Internal ID7009213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12050805..12129371hg38UCSC Ensembl
chr10:12092804..12171370hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3878567
hg1978567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13696142, essv13696152, essv13696163, essv13696139, essv13696147, essv13696145, essv13696135, essv13696153, essv13696157, essv13696160, essv13696159, essv13696143, essv13696136, essv13696155, essv13696161, essv13696137, essv13696149, essv13696156, essv13696144, essv13696154, essv13696150, essv13696141, essv13696138, essv13696158, essv13696148, essv13696151, essv13696146, essv13696162, essv13696140
SamplesHG01986, NA19700, HG02628, NA19909, HG03241, HG03139, NA18519, HG02541, NA18923, NA18498, NA20287, HG02281, NA19789, HG02819, HG03132, NA19184, HG03027, HG03124, HG03136, NA18856, HG03354, HG03567, HG03064, HG03240, HG02982, HG03469, HG03127, HG03025, HG01886
Known GenesDHTKD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622354
Frequency
Sample Size2504
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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