A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718632



Internal ID9952924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45533015..45534794hg38UCSC Ensembl
Outerchr19:46036273..46038052hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381780
hg191780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6747588, essv6863639, essv6902270, essv6828747, essv6682583
SamplesSSM088, SSM033, SSM080, SSM055, SSM012
Known GenesOPA3
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)esv2718632
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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