A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12501304



Internal ID3830059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110133004..110136053hg38UCSC Ensembl
Innerchr6:110133030..110136027hg38UCSC Ensembl
Outerchr6:110132978..110136079hg38UCSC Ensembl
chr6:110454207..110457256hg19UCSC Ensembl
Innerchr6:110454233..110457230hg19UCSC Ensembl
Outerchr6:110454181..110457282hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383050
hg193050
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610349
Supporting Variants
SamplesHG03469
Known GenesWASF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12501304
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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