A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738939



Internal ID10322575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:111869375..111869825hg38UCSC Ensembl
Outerchr9:114631655..114632105hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668002, essv6834518, essv6935638, essv6705824, essv6737582, essv6965070, essv6716335, essv6919709, essv6763113, essv6842023, essv6884811, essv6952774
SamplesSSM027, SSM050, SSM084, SSM021, SSM062, SSM017, SSM040, SSM082, SSM095, SSM025, SSM043, SSM030
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)esv2738939
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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