A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12524389



Internal ID5179223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:120661627..120700081hg38UCSC Ensembl
chr6:120982773..121021227hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3838455
hg1938455
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610568
Supporting Variants
SamplesNA18605
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12524389
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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