A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907975



Internal ID9672675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142751300..142768000hg38UCSC Ensembl
Outerchr7:142459151..142480667hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3816701
hg1921517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735272
Supporting Variants
SamplesSSM014
Known GenesPRSS1, PRSS2, 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)essv6907975
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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