A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12214119



Internal ID2271583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:19400935..19403811hg38UCSC Ensembl
Innerchr6:19400971..19403775hg38UCSC Ensembl
Outerchr6:19400899..19403847hg38UCSC Ensembl
chr6:19401166..19404042hg19UCSC Ensembl
Innerchr6:19401202..19404006hg19UCSC Ensembl
Outerchr6:19401130..19404078hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382877
hg192877
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608272
Supporting Variants
SamplesHG02028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12214119
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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