A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12476177



Internal ID2477993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99467196..99469809hg38UCSC Ensembl
Innerchr6:99467198..99469808hg38UCSC Ensembl
Outerchr6:99467195..99469811hg38UCSC Ensembl
chr6:99915072..99917685hg19UCSC Ensembl
Innerchr6:99915074..99917684hg19UCSC Ensembl
Outerchr6:99915071..99917687hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg382614
hg192614
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610119
Supporting Variants
SamplesNA20908
Known GenesUSP45
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12476177
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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