A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758379



Internal ID9633838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43530960..43856443hg38UCSC Ensembl
Innerchr15:43823158..44148641hg19UCSC Ensembl
Innerchr15:41610450..41935933hg18UCSC Ensembl
Innerchr15:41610450..41935933hg17UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38325484
hg19325484
hg18325484
hg17325484
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760028
Supporting Variantsessv378, essv13561, essv10531, essv23977, essv1157, essv16240
SamplesNA18964, NA19161, NA19160, NA12716, NA19240, NA18971
Known GenesCATSPER2, CATSPER2P1, CKMT1A, CKMT1B, ELL3, HYPK, MAP1A, MFAP1, MIR1282, PDIA3, PPIP5K1, RNU6-28P, SERF2, SERF2-C15ORF63, SERINC4, STRC, WDR76
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758379
Frequency
Sample Size270
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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