A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747362



Internal ID9981646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46464681..46465966hg38UCSC Ensembl
Outerchr13:47038816..47040101hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg381286
hg191286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6949236, essv6873798, essv6831460, essv6807220, essv6796173, essv6905047, essv6835976, essv6731932, essv6688199
SamplesSSM010, SSM013, SSM091, SSM071, SSM001, SSM024, SSM005, SSM009, SSM081
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2747362
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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