A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739218



Internal ID9973559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134470105..134471099hg38UCSC Ensembl
Outerchr9:137361951..137362945hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38995
hg19995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944462, essv6819213, essv6724107, essv6695108, essv6866629, essv6944463, essv6894304, essv6819214, essv6708687
SamplesSSM045, SSM023, SSM089, SSM006, SSM078, SSM037, SSM098
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)esv2739218
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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