A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12432478



Internal ID5175251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:76506300..76542045hg38UCSC Ensembl
Innerchr6:76506300..76542045hg38UCSC Ensembl
Outerchr6:76505800..76542545hg38UCSC Ensembl
chr6:77216017..77251762hg19UCSC Ensembl
Innerchr6:77216017..77251762hg19UCSC Ensembl
Outerchr6:77215517..77252262hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3835746
hg1935746
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609604
Supporting Variants
SamplesNA18602
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12432478
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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