A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739156



Internal ID9973497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133254729..133255686hg38UCSC Ensembl
Outerchr9:136130116..136131073hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38958
hg19958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1267e201
Supporting Variantsessv6842040, essv6799793, essv6866619, essv6716351, essv6894294, essv6861882, essv6958537, essv6965103, essv6691252, essv6791427, essv6919726, essv6677422, essv6731704, essv6768199, essv6702017, essv6939913, essv6684747
SamplesSSM036, SSM027, SSM064, SSM039, SSM088, SSM084, SSM047, SSM026, SSM089, SSM017, SSM032, SSM072, SSM022, SSM070, SSM034, SSM043, SSM098
Known GenesABO
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)esv2739156
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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