A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718109



Internal ID10301745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7796884..7797343hg38UCSC Ensembl
Outerchr19:7861770..7862229hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781055, essv6744695, essv6776642, essv6971896, essv6756300
SamplesSSM008, SSM058, SSM028, SSM066, SSM053
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)esv2718109
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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