A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6727320



Internal ID9997806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150260907..150261331hg38UCSC Ensembl
Outerchr5:149640470..149640894hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730912
Supporting Variants
SamplesSSM007
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)essv6727320
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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