A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622224



Internal ID7009083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:5159905..5282798hg38UCSC Ensembl
Innerchr10:5160291..5282648hg38UCSC Ensembl
Outerchr10:5159756..5282948hg38UCSC Ensembl
chr10:5202104..5324761hg19UCSC Ensembl
Innerchr10:5202254..5324611hg19UCSC Ensembl
Outerchr10:5201954..5324911hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38122894
hg19122658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13685431
SamplesHG01762
Known GenesAKR1C4, AKR1CL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622224
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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