A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622355



Internal ID7009214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12060548..12071248hg38UCSC Ensembl
chr10:12102547..12113247hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3810701
hg1910701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13696182, essv13696186, essv13696177, essv13696192, essv13696175, essv13696171, essv13696173, essv13696187, essv13696190, essv13696189, essv13696180, essv13696188, essv13696185, essv13696166, essv13696168, essv13696183, essv13696174, essv13696164, essv13696179, essv13696170, essv13696191, essv13696172, essv13696165, essv13696178, essv13696176, essv13696167, essv13696184, essv13696181, essv13696169
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)esv3622355
Frequency
Sample Size2504
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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