A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12475471



Internal ID4834796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:98687499..98690776hg38UCSC Ensembl
Innerchr6:98687499..98690776hg38UCSC Ensembl
Outerchr6:98687356..98690923hg38UCSC Ensembl
chr6:99135375..99138652hg19UCSC Ensembl
Innerchr6:99135375..99138652hg19UCSC Ensembl
Outerchr6:99135232..99138799hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg383278
hg193278
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610110
Supporting Variants
SamplesNA12144
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12475471
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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