A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718760



Internal ID9953052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50982713..50983174hg38UCSC Ensembl
Outerchr19:51485969..51486430hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717890, essv6756370, essv6804238, essv6733213, essv6725544, essv6839694, essv6820924, essv6863651, essv6846764, essv6933000, essv6921411, essv6766380, essv6950224, essv6971977, essv6871515, essv6967534, essv6948029, essv6699422, essv6812981, essv6814776
SamplesSSM083, SSM027, SSM024, SSM045, SSM038, SSM009, SSM073, SSM088, SSM058, SSM028, SSM090, SSM047, SSM017, SSM003, SSM085, SSM020, SSM078, SSM076, SSM043, SSM063
Known GenesKLK7
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)esv2718760
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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