A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6782503



Internal ID9840567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76483504..76981729hg38UCSC Ensembl
Outerchr7:76112821..76611046hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38498226
hg19498226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734687
Supporting Variants
SamplesSSM068
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3, UPK3B
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)essv6782503
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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