A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718453



Internal ID10302089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:31242522..31243048hg38UCSC Ensembl
Outerchr19:31733428..31733954hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941438, essv6666822, essv6699407, essv6812959, essv6954366, essv6898381, essv6880229
SamplesSSM038, SSM093, SSM076, SSM022, SSM025, SSM004, SSM099
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)esv2718453
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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