A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718340



Internal ID9952631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21575785..21576181hg38UCSC Ensembl
Outerchr19:21758587..21758983hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716920, essv6914597, essv6909770, essv6797106, essv6710333, essv6678857, essv6868395, essv6921332, essv6843522, essv6846715, essv6820872, essv6954345, essv6666430, essv6816316, essv6807133, essv6699393, essv6692439
SamplesSSM036, SSM071, SSM038, SSM074, SSM002, SSM041, SSM084, SSM029, SSM089, SSM017, SSM032, SSM014, SSM006, SSM085, SSM078, SSM077, SSM025
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)esv2718340
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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