A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730913



Internal ID10314549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150261006..150261181hg38UCSC Ensembl
Outerchr5:149640569..149640744hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6687124, essv6926653
SamplesSSM019, SSM035
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)esv2730913
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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