A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617372



Internal ID7004257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60305691..60311865hg38UCSC Ensembl
Innerchr8:60305741..60311815hg38UCSC Ensembl
Outerchr8:60305606..60311950hg38UCSC Ensembl
chr8:61218250..61224424hg19UCSC Ensembl
Innerchr8:61218300..61224374hg19UCSC Ensembl
Outerchr8:61218165..61224509hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg386175
hg196175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13209881, essv13209880
SamplesHG02265, HG01572
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617372
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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