A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12559536



Internal ID2094532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134282451..134283309hg38UCSC Ensembl
Innerchr6:134282478..134283282hg38UCSC Ensembl
Outerchr6:134282424..134283336hg38UCSC Ensembl
chr6:134603589..134604447hg19UCSC Ensembl
Innerchr6:134603616..134604420hg19UCSC Ensembl
Outerchr6:134603562..134604474hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38859
hg19859
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610876
Supporting Variants
SamplesHG01896
Known GenesSGK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12559536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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