A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617106



Internal ID6657302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47965685..47972709hg38UCSC Ensembl
Innerchr8:47965700..47972694hg38UCSC Ensembl
Outerchr8:47965670..47972724hg38UCSC Ensembl
chr8:48878245..48885269hg19UCSC Ensembl
Innerchr8:48878260..48885254hg19UCSC Ensembl
Outerchr8:48878230..48885284hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg387025
hg197025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13192531, essv13192530
SamplesNA19027, NA19042
Known GenesMCM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617106
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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