A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736687



Internal ID9971019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17408071..17408409hg38UCSC Ensembl
Outerchr8:17265580..17265918hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672042, essv6795316, essv6900147, essv6964691, essv6818900, essv6805892, essv6856148, essv6677148, essv6787066, essv6720052, essv6808867, essv6958076, essv6687771, essv6791167, essv6850122, essv6866311, essv6908213, essv6860320, essv6975903
SamplesSSM027, SSM086, SSM078, SSM089, SSM031, SSM035, SSM071, SSM032, SSM100, SSM011, SSM029, SSM069, SSM087, SSM044, SSM074, SSM075, SSM026, SSM014, SSM070
Known GenesMTMR7
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)esv2736687
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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