A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12540669



Internal ID6353291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126237453..126261020hg38UCSC Ensembl
Innerchr6:126237603..126260870hg38UCSC Ensembl
Outerchr6:126237303..126261170hg38UCSC Ensembl
chr6:126558599..126582166hg19UCSC Ensembl
Innerchr6:126558749..126582016hg19UCSC Ensembl
Outerchr6:126558449..126582316hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg3823568
hg1923568
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610709
Supporting Variants
SamplesNA20282
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12540669
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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