A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12189408



Internal ID476980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11634686..11641031hg38UCSC Ensembl
Innerchr6:11634732..11640985hg38UCSC Ensembl
Outerchr6:11634640..11641077hg38UCSC Ensembl
chr6:11634919..11641264hg19UCSC Ensembl
Innerchr6:11634965..11641218hg19UCSC Ensembl
Outerchr6:11634873..11641310hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg386346
hg196346
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608098
Supporting Variants
SamplesHG00157
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12189408
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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