A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv22n31



Internal ID18992018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76518033..77179463hg38UCSC Ensembl
chr7:76147350..76808780hg19UCSC Ensembl
chr7:75985286..76646716hg18UCSC Ensembl
chr7:75792001..76453431hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38661431
hg19661431
hg18661431
hg17661431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv471536, nsv471338, nsv471336
SamplesNA18507, JDW, YH
Known GenesCCDC146, DTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3, UPK3B
MethodSequencing
AnalysisWe constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
Comments
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)dgv22n31
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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