A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6952290



Internal ID9713792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142747372..142758287hg38UCSC Ensembl
Outerchr7:142455223..142466134hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3810916
hg1910912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735271
Supporting Variants
SamplesSSM025
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)essv6952290
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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