A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718889



Internal ID9953181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54682660..54683590hg38UCSC Ensembl
Outerchr19:55193917..55194883hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38931
hg19967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971992, essv6713991, essv6792996, essv6797173, essv6967554, essv6666548, essv6925423, essv6747612, essv6741947
SamplesSSM071, SSM027, SSM042, SSM028, SSM018, SSM029, SSM055, SSM070, SSM052
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)esv2718889
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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