A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6959418



Internal ID9643936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:157653387..157692401hg38UCSC Ensembl
Outerchr5:157080395..157119409hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3839015
hg1939015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730960
Supporting Variants
SamplesSSM004
Known GenesC5orf52
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)essv6959418
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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