A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv21n31



Internal ID18992017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76433862..76505034hg38UCSC Ensembl
chr7:76063179..76134351hg19UCSC Ensembl
chr7:75901115..75972287hg18UCSC Ensembl
chr7:75707830..75779002hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3871173
hg1971173
hg1871173
hg1771173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv471342, nsv471479
SamplesNA18507, JDW, YH
Known GenesDTX2, FDPSP2, ZP3
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)dgv21n31
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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