A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739446



Internal ID9973787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137436134..137436605hg38UCSC Ensembl
Outerchr9:140330586..140331057hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6823253, essv6677438, essv6815125, essv6705862, essv6771687, essv6827308, essv6894322, essv6684758
SamplesSSM079, SSM065, SSM032, SSM040, SSM080, SSM077, SSM034, SSM098
Known GenesENTPD8
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)esv2739446
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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