A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540646



Internal ID18741722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:151297498..151302365hg38UCSC Ensembl
Outerchr6:151296866..151302865hg38UCSC Ensembl
Innerchr6:151618633..151623500hg19UCSC Ensembl
Outerchr6:151618001..151624000hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739393
Samples
Known GenesAKAP12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540646
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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