A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748268



Internal ID10329238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113231938..113232560hg38UCSC Ensembl
Outerchr13:113886252..113886874hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792094, essv6932109, essv6819991, essv6977659, essv6678051, essv6959678, essv6673549
SamplesSSM029, SSM026, SSM032, SSM031, SSM020, SSM078, SSM070
Known GenesCUL4A
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)esv2748268
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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