A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738896



Internal ID9973237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:107288889..107289134hg38UCSC Ensembl
Outerchr9:110051170..110051415hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944424, essv6684727, essv6727918
SamplesSSM034, SSM046, SSM023
Known GenesRAD23B
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)esv2738896
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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