A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747991



Internal ID10328961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:109654607..109654913hg38UCSC Ensembl
Outerchr13:110306954..110307260hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867430, essv6932077, essv6800428, essv6940556, essv6673502, essv6867710, essv6857551, essv6761121
SamplesSSM011, SSM087, SSM061, SSM089, SSM031, SSM072, SSM020, SSM022
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)esv2747991
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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