A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572007



Internal ID18700205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:97756326..97773150hg38UCSC Ensembl
Innerchr7:97385638..97402462hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3816825
hg1916825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1938e212
Supporting Variantsessv9784457, essv9784453, essv9784455, essv9784464, essv9784454, essv9784465, essv9784462, essv9784452, essv9784463, essv9784460, essv9784461, essv9784459, essv9784466, essv9784458
Samples400204SC, 401852SK, 401321CE, 400949AM, 401824MM, 401030GI, 401634CH, 400270BD, 401386WA, 401822TL, 401580CA, 400164SS, 400255CD, 401111LH
Known Genes
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)esv3572007
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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