A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618732



Internal ID7005614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125801847..125806417hg38UCSC Ensembl
Innerchr8:125801847..125806417hg38UCSC Ensembl
Outerchr8:125801749..125806529hg38UCSC Ensembl
chr8:126814091..126818661hg19UCSC Ensembl
Innerchr8:126814091..126818661hg19UCSC Ensembl
Outerchr8:126813993..126818773hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384571
hg194571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13316244, essv13316243, essv13316242
SamplesHG03731, NA18959, HG03019
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618732
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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