A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12319793



Internal ID3790126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36151746..36173015hg38UCSC Ensembl
Innerchr6:36151746..36173015hg38UCSC Ensembl
Outerchr6:36151663..36173055hg38UCSC Ensembl
chr6:36119523..36140792hg19UCSC Ensembl
Innerchr6:36119523..36140792hg19UCSC Ensembl
Outerchr6:36119440..36140832hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3821270
hg1921270
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608698
Supporting Variants
SamplesHG03437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12319793
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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