A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804252



Internal ID9858543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55078432..55078880hg38UCSC Ensembl
Outerchr19:55589800..55590248hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718945, esv2718872
Supporting Variants
SamplesSSM073
Known GenesEPS8L1
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)essv6804252
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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