A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6723606



Internal ID9788042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142747398..142758236hg38UCSC Ensembl
Outerchr7:142455249..142466083hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3810839
hg1910835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735271
Supporting Variants
SamplesSSM045
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)essv6723606
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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