A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617139



Internal ID7004025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49301296..49304015hg38UCSC Ensembl
Innerchr8:49301296..49304015hg38UCSC Ensembl
Outerchr8:49301159..49304190hg38UCSC Ensembl
chr8:50213855..50216574hg19UCSC Ensembl
Innerchr8:50213855..50216574hg19UCSC Ensembl
Outerchr8:50213718..50216749hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg382720
hg192720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13195392, essv13195391, essv13195393
SamplesHG00736, NA19455, HG02976
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617139
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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