A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv932e212



Internal ID22783859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45676510..45693629hg38UCSC Ensembl
chr17:43753876..43770995hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3817120
hg1917120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582700, esv3582699, esv3582697, esv3582696
Samples401706BJ, 400077EB, 401093VL, 400453LN, 401582GG, 401064FR, 400134WK, 400688FL, 401017SC, 400376SJ, 401105WS, 401882CR, 401576WC, 400243CK
Known GenesCRHR1
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv932e212
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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