A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617410



Internal ID7004295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:62390999..62395461hg38UCSC Ensembl
Innerchr8:62391038..62395423hg38UCSC Ensembl
Outerchr8:62390961..62395500hg38UCSC Ensembl
chr8:63303558..63308020hg19UCSC Ensembl
Innerchr8:63303597..63307982hg19UCSC Ensembl
Outerchr8:63303520..63308059hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg384463
hg194463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13212555
SamplesHG04225
Known GenesNKAIN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617410
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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