A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6918597



Internal ID10029014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150260927..150261344hg38UCSC Ensembl
Outerchr5:149640490..149640907hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730912
Supporting Variants
SamplesSSM017
Known GenesCAMK2A
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)essv6918597
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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