A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717854



Internal ID10301490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1923580..1924226hg38UCSC Ensembl
Outerchr19:1923579..1924225hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38647
hg19647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971869, essv6696645, essv6797063, essv6967389, essv6703482, essv6706979, essv6756282, essv6666345, essv6839610, essv6689019, essv6807114, essv6725459, essv6766305
SamplesSSM083, SSM071, SSM027, SSM045, SSM039, SSM074, SSM058, SSM028, SSM029, SSM035, SSM040, SSM037, SSM063
Known GenesSCAMP4
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)esv2717854
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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