A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738769



Internal ID9973110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:91798267..91798901hg38UCSC Ensembl
Outerchr9:94560549..94561183hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740676, essv6958460, essv6743695, essv6795567, essv6931335
SamplesSSM053, SSM020, SSM071, SSM052, SSM026
Known GenesROR2
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)esv2738769
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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