A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717978



Internal ID10301614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3994512..3994899hg38UCSC Ensembl
Outerchr19:3994510..3994897hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6909745, essv6773081, essv6693654, essv6954307, essv6678837, essv6883032, essv6874399, essv6947229, essv6895527, essv6858686
SamplesSSM065, SSM087, SSM094, SSM032, SSM003, SSM014, SSM005, SSM091, SSM025, SSM098
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)esv2717978
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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