A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738390



Internal ID10322026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:34935408..34938868hg38UCSC Ensembl
Outerchr9:34935405..34938865hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg383461
hg193461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912091, essv6701919, essv6681127
SamplesSSM039, SSM033, SSM015
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)esv2738390
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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