A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13213191



Internal ID6391535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64166595..64227256hg38UCSC Ensembl
chr8:65079152..65139813hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3860662
hg1960662
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617442
Supporting Variants
SamplesNA20339
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13213191
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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