A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16402



Internal ID9614117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182572973..182970356hg38UCSC Ensembl
Innerchr2:183437700..183835084hg19UCSC Ensembl
Innerchr2:183145945..183543329hg18UCSC Ensembl
Innerchr2:183263206..183660590hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38397384
hg19397385
hg18397385
hg17397385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757842
Supporting Variants
SamplesNA19139
Known GenesDNAJC10, FRZB, NCKAP1
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)essv16402
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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