A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608118



Internal ID6648357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12831375..12837680hg38UCSC Ensembl
Innerchr6:12831382..12837674hg38UCSC Ensembl
Outerchr6:12831369..12837687hg38UCSC Ensembl
chr6:12831607..12837912hg19UCSC Ensembl
Innerchr6:12831614..12837906hg19UCSC Ensembl
Outerchr6:12831601..12837919hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg386306
hg196306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12190052, essv12190051, essv12190048, essv12190053, essv12190049, essv12190047, essv12190050
SamplesNA20510, HG00112, NA19783, HG01501, HG01187, HG00132, HG03777
Known GenesPHACTR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608118
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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