A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6690317



Internal ID9759736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180615566..180616110hg38UCSC Ensembl
Outerchr5:180042566..180043110hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38545
hg19545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731346
Supporting Variants
SamplesSSM036
Known GenesFLT4
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)essv6690317
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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