A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6791981



Internal ID10196229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29213280..29348461hg38UCSC Ensembl
Outerchr13:29787417..29922598hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38135182
hg19135182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747196, esv2747194
Supporting Variants
SamplesSSM070
Known GenesMTUS2
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)essv6791981
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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