A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12355272



Internal ID5576836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53581885..53604869hg38UCSC Ensembl
Innerchr6:53581902..53604852hg38UCSC Ensembl
Outerchr6:53581868..53604886hg38UCSC Ensembl
chr6:53446683..53469667hg19UCSC Ensembl
Innerchr6:53446700..53469650hg19UCSC Ensembl
Outerchr6:53446666..53469684hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3822985
hg1922985
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609028
Supporting Variants
SamplesNA19023
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12355272
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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