A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6969175



Internal ID10075910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:111359239..111359559hg38UCSC Ensembl
Outerchr5:110694937..110695257hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730592
Supporting Variants
SamplesSSM028
Known GenesCAMK4
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)essv6969175
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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