A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907258



Internal ID10020005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:40794487..40794887hg38UCSC Ensembl
Outerchr5:40794589..40794989hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730120
Supporting Variants
SamplesSSM014
Known GenesPRKAA1
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)essv6907258
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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