A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618704



Internal ID7005586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124794985..124798316hg38UCSC Ensembl
Innerchr8:124795009..124798293hg38UCSC Ensembl
Outerchr8:124794962..124798340hg38UCSC Ensembl
chr8:125807227..125810558hg19UCSC Ensembl
Innerchr8:125807251..125810535hg19UCSC Ensembl
Outerchr8:125807204..125810582hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383332
hg193332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13312380, essv13312381
SamplesNA20517, HG01566
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618704
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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