A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924534



Internal ID9687244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:92347845..92348085hg38UCSC Ensembl
Outerchr13:93000098..93000338hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747812, esv2747813
Supporting Variants
SamplesSSM018
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)essv6924534
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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