A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12329133



Internal ID3339628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42739930..42743648hg38UCSC Ensembl
Innerchr6:42739988..42743590hg38UCSC Ensembl
Outerchr6:42739872..42743706hg38UCSC Ensembl
chr6:42707668..42711386hg19UCSC Ensembl
Innerchr6:42707726..42711328hg19UCSC Ensembl
Outerchr6:42707610..42711444hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383719
hg193719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608803
Supporting Variants
SamplesHG02979
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12329133
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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