A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738974



Internal ID10322610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:116288716..116289570hg38UCSC Ensembl
Outerchr9:119050995..119051849hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735266, essv6746519, essv6712634, essv6757941, essv6709156, essv6687952, essv6935641, essv6958505, essv6740702, essv6716337, essv6672460, essv6737585, essv6965078, essv6752247, essv6743718, essv6727926, essv6755207, essv6765520
SamplesSSM059, SSM027, SSM046, SSM050, SSM042, SSM041, SSM057, SSM058, SSM021, SSM026, SSM035, SSM031, SSM007, SSM053, SSM055, SSM043, SSM052, SSM063
Known GenesPAPPA
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)esv2738974
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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