A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718318



Internal ID9952609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:20624310..20624633hg38UCSC Ensembl
Outerchr19:20807116..20807439hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758863, essv6921326, essv6781154, essv6745943, essv6874426, essv6913660, essv6666544, essv6764003, essv6858747, essv6820867, essv6682534, essv6928777, essv6750370, essv6753285, essv6947529, essv6761651, essv6717824, essv6666424, essv6967466, essv6738607, essv6741879, essv6780483, essv6735806, essv6756319, essv6937310, essv6744707
SamplesSSM007, SSM027, SSM053, SSM091, SSM033, SSM061, SSM078, SSM043, SSM057, SSM001, SSM067, SSM050, SSM062, SSM056, SSM017, SSM029, SSM003, SSM021, SSM087, SSM019, SSM052, SSM004, SSM015, SSM049, SSM058, SSM059
Known GenesZNF626
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)esv2718318
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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