A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6705389



Internal ID9771644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142751287..142768000hg38UCSC Ensembl
Outerchr7:142459138..142480697hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3816714
hg1921560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735272
Supporting Variants
SamplesSSM040
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)essv6705389
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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