A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6826793



Internal ID9880910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142750668..142761609hg38UCSC Ensembl
Outerchr7:142458519..142469458hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3810942
hg1910940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735272, esv2735271
Supporting Variants
SamplesSSM080
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)essv6826793
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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