A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572113



Internal ID18700311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:120664602..120674421hg38UCSC Ensembl
Innerchr7:120304656..120314475hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg389820
hg199820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1957e212
Supporting Variantsessv9784798, essv9784792, essv9784796, essv9784793, essv9784809, essv9784806, essv9784803, essv9784802, essv9784795, essv9784799, essv9784807, essv9784801, essv9784805, essv9784794, essv9784808, essv9784804, essv9784797
Samples401799DP, 400995MS, 401719RL, 400730SH, 401133JG, 400579HJ, 400870KC, 401694SG, 401210PB, 400076LC, 401884WJ, 400624RJ, 400483DP, 401100SJ, 402023EC, 401554VN, 400581VJ
Known GenesKCND2
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)esv3572113
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer