A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617638



Internal ID7004523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73674912..73682585hg38UCSC Ensembl
Innerchr8:73675412..73682085hg38UCSC Ensembl
Outerchr8:73673912..73683585hg38UCSC Ensembl
chr8:74587147..74594820hg19UCSC Ensembl
Innerchr8:74587647..74594320hg19UCSC Ensembl
Outerchr8:74586147..74595820hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg387674
hg197674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13225866, essv13225865, essv13225867
SamplesNA18959, HG00238, HG00534
Known GenesSTAU2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617638
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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