A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1878



Internal ID9616757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130038320..130272118hg38UCSC Ensembl
Innerchr2:130795893..131029691hg19UCSC Ensembl
Innerchr2:130512363..130746161hg18UCSC Ensembl
Innerchr2:130512123..130745921hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38233799
hg19233799
hg18233799
hg17233799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA18976
Known GenesCCDC74B, FAR2P1, MED15P9, MZT2B, POTEF, SMPD4, TUBA3E
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)essv1878
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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