A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747236



Internal ID10328206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:31078229..31078316hg38UCSC Ensembl
Outerchr13:31652366..31652453hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673373
SamplesSSM031
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)esv2747236
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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