A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748090



Internal ID10329060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:111631632..111631818hg38UCSC Ensembl
Outerchr13:112283979..112284165hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959641, essv6912824, essv6673518, essv6724702, essv6695786
SamplesSSM045, SSM026, SSM031, SSM015, SSM037
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)esv2748090
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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