A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717861



Internal ID10301497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1967702..1968465hg38UCSC Ensembl
Outerchr19:1967701..1968464hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv488e201
Supporting Variantsessv6967392, essv6843471, essv6921282, essv6967391, essv6733119, essv6828682, essv6971870, essv6804190, essv6733118, essv6868352, essv6909743, essv6776623, essv6699372, essv6725460, essv6703483, essv6678827, essv6773075, essv6801263
SamplesSSM027, SSM045, SSM065, SSM038, SSM039, SSM073, SSM028, SSM084, SSM047, SSM089, SSM017, SSM032, SSM014, SSM066, SSM072, SSM080
Known GenesCSNK1G2
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)esv2717861
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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