A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738324



Internal ID10321960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:27670283..27670845hg38UCSC Ensembl
Outerchr9:27670281..27670843hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38563
hg19563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695004, essv6740632, essv6834452, essv6856400, essv6760610, essv6845567, essv6958368, essv6752190, essv6850383, essv6667960, essv6976194, essv6964952, essv6672327
SamplesSSM027, SSM087, SSM057, SSM061, SSM029, SSM026, SSM031, SSM086, SSM085, SSM082, SSM037, SSM052, 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)esv2738324
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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