A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622357



Internal ID6662527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12069904..12082451hg38UCSC Ensembl
chr10:12111903..12124450hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3812548
hg1912548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13696198, essv13696215, essv13696218, essv13696200, essv13696202, essv13696208, essv13696224, essv13696206, essv13696207, essv13696205, essv13696209, essv13696221, essv13696220, essv13696203, essv13696222, essv13696223, essv13696210, essv13696211, essv13696217, essv13696213, essv13696201, essv13696197, essv13696204, essv13696194, essv13696195, essv13696214, essv13696216, essv13696219, essv13696199, essv13696196, essv13696212
SamplesHG01986, NA19700, HG02628, NA19909, HG03241, NA20298, HG03139, NA18519, HG02541, NA18923, NA18498, NA20287, HG02281, NA19789, HG02819, HG02166, 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)esv3622357
Frequency
Sample Size2504
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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