A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747862



Internal ID9982146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:98653713..98654190hg38UCSC Ensembl
Outerchr13:99305967..99306444hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972818, essv6857525, essv6867543, essv6912801, essv6768658, essv6920411, essv6959600, essv6909081, essv6809545, essv6673477, essv6966122, essv6774130, essv6720883, essv6706389
SamplesSSM008, SSM027, SSM075, SSM011, SSM064, SSM087, SSM026, SSM017, SSM031, SSM044, SSM014, SSM040, SSM015, SSM004
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)esv2747862
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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