A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3624773



Internal ID6664934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122480190..122483402hg38UCSC Ensembl
Innerchr10:122480190..122483402hg38UCSC Ensembl
Outerchr10:122479914..122483612hg38UCSC Ensembl
chr10:124239706..124242918hg19UCSC Ensembl
Innerchr10:124239706..124242918hg19UCSC Ensembl
Outerchr10:124239430..124243128hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg383213
hg193213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13955158, essv13955169, essv13955157, essv13955175, essv13955180, essv13955171, essv13955164, essv13955156, essv13955183, essv13955163, essv13955170, essv13955173, essv13955165, essv13955161, essv13955159, essv13955168, essv13955179, essv13955166, essv13955184, essv13955182, essv13955172, essv13955160, essv13955178, essv13955181, essv13955177, essv13955162, essv13955176, essv13955167, essv13955174
SamplesHG03812, NA20853, NA21127, NA20899, HG04158, HG03753, HG01586, HG03490, HG04144, HG02733, HG03691, HG03777, HG03995, NA21122, HG04062, NA20867, NA20866, HG02601, HG03653, NA21113, HG03833, HG04006, HG03702, HG01866, NA21125, NA20868, HG03977, HG03716, HG03815
Known GenesHTRA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3624773
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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