A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009113



Internal ID6721217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:89255550..89264229hg38UCSC Ensembl
Outerchr6:89965269..89973948hg19UCSC Ensembl
Outerchr6:90021988..90030667hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg388680
hg198680
hg188680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564844
SamplesHuRef
Known GenesGABRR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009113
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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