A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12573234



Internal ID4090975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:141698619..141713253hg38UCSC Ensembl
Innerchr6:141698630..141713243hg38UCSC Ensembl
Outerchr6:141698609..141713264hg38UCSC Ensembl
chr6:142019756..142034390hg19UCSC Ensembl
Innerchr6:142019767..142034380hg19UCSC Ensembl
Outerchr6:142019746..142034401hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3814635
hg1914635
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611058
Supporting Variants
SamplesHG03716
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12573234
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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