A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12466975



Internal ID4105602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:94373680..94544868hg38UCSC Ensembl
Innerchr6:94374180..94544368hg38UCSC Ensembl
Outerchr6:94372680..94545868hg38UCSC Ensembl
chr6:95083398..95254586hg19UCSC Ensembl
Innerchr6:95083898..95254086hg19UCSC Ensembl
Outerchr6:95082398..95255586hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38171189
hg19171189
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610010
Supporting Variants
SamplesHG03729
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12466975
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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