A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747221



Internal ID10328191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30469455..30469688hg38UCSC Ensembl
Outerchr13:31043592..31043825hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737996, essv6775826, essv6953374, essv6867327, essv6920349, essv6977475, essv6681711, essv6768611, essv6773475, essv6891394, essv6966018, essv6851419, essv6959495, essv6755673
SamplesSSM008, SSM027, SSM064, SSM097, SSM050, SSM058, SSM029, SSM026, SSM089, SSM017, SSM086, SSM033, SSM066, SSM025
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)esv2747221
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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