A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819950



Internal ID10219560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99025766..99026386hg38UCSC Ensembl
Outerchr13:99678020..99678640hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747871, esv2747870
Supporting Variants
SamplesSSM078
Known GenesDOCK9
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)essv6819950
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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