A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12356719



Internal ID2358535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53765490..53799145hg38UCSC Ensembl
Innerchr6:53765502..53799134hg38UCSC Ensembl
Outerchr6:53765479..53799157hg38UCSC Ensembl
chr6:53630288..53663943hg19UCSC Ensembl
Innerchr6:53630300..53663932hg19UCSC Ensembl
Outerchr6:53630277..53663955hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3833656
hg1933656
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609034
Supporting Variants
SamplesHG04189
Known GenesLRRC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12356719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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