A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738947



Internal ID9973288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:112501994..112502950hg38UCSC Ensembl
Outerchr9:115264274..115265230hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38957
hg19957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861861, essv6958500, essv6866597, essv6856524, essv6976315, essv6965072, essv6850508, essv6755204, essv6737583, essv6672455, essv6740699, essv6752246, essv6819178, essv6757938, essv6765517
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM031, SSM057, SSM050, SSM029, SSM063, SSM087, SSM052, SSM026, SSM058, SSM059
Known GenesKIAA1958
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)esv2738947
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer