A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719075



Internal ID9953367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57499244..57499497hg38UCSC Ensembl
Outerchr19:58010612..58010865hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828793, essv6801398, essv6784723
SamplesSSM068, SSM072, SSM080
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)esv2719075
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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