A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907978



Internal ID9672672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142465112..142486119hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg1921008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735272
Supporting Variants
SamplesSSM014
Known GenesPRSS2, PRSS3P2
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)essv6907978
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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