A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747813



Internal ID9982097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:92347845..92348092hg38UCSC Ensembl
Outerchr13:93000098..93000345hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728511, essv6698897, essv6862617, essv6806529, essv6739887, essv6924534, essv6768653, essv6724679, essv6870867
SamplesSSM007, SSM088, SSM090, SSM064, SSM045, SSM038, SSM046, SSM074, SSM018
Known GenesGPC5
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)esv2747813
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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