A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6733487



Internal ID9982419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78005205..78006926hg38UCSC Ensembl
Outerchr13:78579340..78581061hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg381722
hg191722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747695
Supporting Variants
SamplesSSM001
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)essv6733487
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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