A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616293



Internal ID7003180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12819854..12820557hg38UCSC Ensembl
Innerchr8:12819904..12820507hg38UCSC Ensembl
Outerchr8:12819804..12820607hg38UCSC Ensembl
chr8:12677363..12678066hg19UCSC Ensembl
Innerchr8:12677413..12678016hg19UCSC Ensembl
Outerchr8:12677313..12678116hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13113694, essv13113695, essv13113696, essv13113690, essv13113691, essv13113697, essv13113692, essv13113693
SamplesHG03559, HG02860, HG02703, HG02896, HG02982, HG02646, HG03060, HG02861
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616293
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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