A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12498539



Internal ID2500355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106006288..106007560hg38UCSC Ensembl
Innerchr6:106006288..106007560hg38UCSC Ensembl
Outerchr6:106006057..106007832hg38UCSC Ensembl
chr6:106454163..106455435hg19UCSC Ensembl
Innerchr6:106454163..106455435hg19UCSC Ensembl
Outerchr6:106453932..106455707hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381273
hg191273
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610262
Supporting Variants
SamplesHG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12498539
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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