A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6837796



Internal ID9891000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142748783..142768000hg38UCSC Ensembl
Outerchr7:142456634..142478246hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3819218
hg1921613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735272
Supporting Variants
SamplesSSM083
Known GenesPRSS1
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)essv6837796
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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