A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12363352



Internal ID6367406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55548797..55553113hg38UCSC Ensembl
Innerchr6:55548818..55553092hg38UCSC Ensembl
Outerchr6:55548776..55553134hg38UCSC Ensembl
chr6:55413595..55417911hg19UCSC Ensembl
Innerchr6:55413616..55417890hg19UCSC Ensembl
Outerchr6:55413574..55417932hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg384317
hg194317
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609070
Supporting Variants
SamplesNA20298
Known GenesHMGCLL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12363352
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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