A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12466973



Internal ID6359663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:94356826..94499838hg38UCSC Ensembl
chr6:95066544..95209556hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38143013
hg19143013
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610009
Supporting Variants
SamplesNA20289
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12466973
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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