A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12215646



Internal ID5245609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:19814587..19821001hg38UCSC Ensembl
Innerchr6:19814587..19821001hg38UCSC Ensembl
Outerchr6:19814342..19821277hg38UCSC Ensembl
chr6:19814818..19821232hg19UCSC Ensembl
Innerchr6:19814818..19821232hg19UCSC Ensembl
Outerchr6:19814573..19821508hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386415
hg196415
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608282
Supporting Variants
SamplesNA18632
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12215646
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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