A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12359987



Internal ID4700556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54233920..54259104hg38UCSC Ensembl
Innerchr6:54233951..54259074hg38UCSC Ensembl
Outerchr6:54233890..54259135hg38UCSC Ensembl
chr6:54098718..54123902hg19UCSC Ensembl
Innerchr6:54098749..54123872hg19UCSC Ensembl
Outerchr6:54098688..54123933hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3825185
hg1925185
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609046
Supporting Variants
SamplesHG04219
Known GenesMLIP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12359987
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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