A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12213535



Internal ID5547915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:19175378..19180469hg38UCSC Ensembl
Innerchr6:19175378..19180469hg38UCSC Ensembl
Outerchr6:19175196..19180684hg38UCSC Ensembl
chr6:19175609..19180700hg19UCSC Ensembl
Innerchr6:19175609..19180700hg19UCSC Ensembl
Outerchr6:19175427..19180915hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385092
hg195092
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608264
Supporting Variants
SamplesNA19004
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12213535
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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