A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12565550



Internal ID4980511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137814818..137817226hg38UCSC Ensembl
Innerchr6:137814851..137817193hg38UCSC Ensembl
Outerchr6:137814785..137817259hg38UCSC Ensembl
chr6:138135955..138138363hg19UCSC Ensembl
Innerchr6:138135988..138138330hg19UCSC Ensembl
Outerchr6:138135922..138138396hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg382409
hg192409
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610947
Supporting Variants
SamplesNA12890
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12565550
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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