A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702630



Internal ID10114409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71552998..71553310hg38UCSC Ensembl
Outerchr13:72127130..72127442hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747606, esv2747604, esv2747603
Supporting Variants
SamplesSSM039
Known GenesDACH1
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)essv6702630
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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