A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748044



Internal ID10329014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110826536..110827646hg38UCSC Ensembl
Outerchr13:111478883..111479993hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977631, essv6836353, essv6807698, essv6772282, essv6867435, essv6787979, essv6765895, essv6924553, essv6758374, essv6775898, essv6920425, essv6732338, essv6819975, essv6940563, essv6752726, essv6688565, essv6949306, essv6940818, essv6774253, essv6945184, essv6800436, essv6747008, essv6953455, essv6842654
SamplesSSM059, SSM008, SSM024, SSM065, SSM009, SSM057, SSM023, SSM084, SSM047, SSM018, SSM069, SSM029, SSM089, SSM017, SSM003, SSM066, SSM072, SSM078, SSM005, SSM022, SSM010, SSM055, SSM025, SSM063
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)esv2748044
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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