A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617431



Internal ID7004316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63672529..63678332hg38UCSC Ensembl
Innerchr8:63672529..63678332hg38UCSC Ensembl
Outerchr8:63672029..63678832hg38UCSC Ensembl
chr8:64585087..64590890hg19UCSC Ensembl
Innerchr8:64585087..64590890hg19UCSC Ensembl
Outerchr8:64584587..64591390hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg385804
hg195804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13213159
SamplesNA20849
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617431
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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