A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738326



Internal ID10321962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:27670555..27670658hg38UCSC Ensembl
Outerchr9:27670553..27670656hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850383, essv6672327
SamplesSSM031, SSM086
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)esv2738326
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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