A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12540862



Internal ID620518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127358646..127359204hg38UCSC Ensembl
Innerchr6:127358667..127359183hg38UCSC Ensembl
Outerchr6:127358625..127359225hg38UCSC Ensembl
chr6:127679791..127680349hg19UCSC Ensembl
Innerchr6:127679812..127680328hg19UCSC Ensembl
Outerchr6:127679770..127680370hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38559
hg19559
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610721
Supporting Variants
SamplesHG00271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12540862
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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