A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622214



Internal ID6662384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:4972626..5103318hg38UCSC Ensembl
Innerchr10:4973126..5102818hg38UCSC Ensembl
Outerchr10:4971626..5104318hg38UCSC Ensembl
chr10:5014818..5145510hg19UCSC Ensembl
Innerchr10:5015318..5145010hg19UCSC Ensembl
Outerchr10:5013818..5146510hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38130693
hg19130693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13685256, essv13685255
SamplesHG03437, HG03458
Known GenesAKR1C1, AKR1C2, AKR1C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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