A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748162



Internal ID10329132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112656836..112658019hg38UCSC Ensembl
Outerchr13:113311150..113312333hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381184
hg191184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779668, essv6695795, essv6673531, essv6867447, essv6815646, essv6977644, essv6940895, essv6973006, essv6851567, essv6713196, essv6724711
SamplesSSM045, SSM042, SSM029, SSM089, SSM003, SSM031, SSM067, SSM086, SSM037, SSM077, SSM004
Known GenesC13orf35
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)esv2748162
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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