A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730912



Internal ID10314548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150260907..150261344hg38UCSC Ensembl
Outerchr5:149640470..149640907hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6926852, essv6687124, essv6926653, essv6903599, essv6727320, essv6918597
SamplesSSM013, SSM017, SSM019, SSM035, SSM003, SSM007
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)esv2730912
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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