A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12448778



Internal ID5573094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:80548821..80551584hg38UCSC Ensembl
Innerchr6:80548832..80551573hg38UCSC Ensembl
Outerchr6:80548810..80551595hg38UCSC Ensembl
chr6:81258538..81261301hg19UCSC Ensembl
Innerchr6:81258549..81261290hg19UCSC Ensembl
Outerchr6:81258527..81261312hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg382764
hg192764
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609712
Supporting Variants
SamplesNA19020
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12448778
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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