A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540596



Internal ID18394986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:146548365..146554763hg38UCSC Ensembl
Outerchr6:146548156..146554864hg38UCSC Ensembl
Innerchr6:146869501..146875899hg19UCSC Ensembl
Outerchr6:146869292..146876000hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg386709
hg196709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739343
Samples
Known GenesRAB32
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540596
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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