A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3690



Internal ID9969024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73489905..73802940hg38UCSC Ensembl
Innerchr2:73717032..74030067hg19UCSC Ensembl
Innerchr2:73570540..73883575hg18UCSC Ensembl
Innerchr2:73628687..73941722hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38313036
hg19313036
hg18313036
hg17313036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757806
Supporting Variants
SamplesNA18947
Known GenesALMS1, ALMS1P, C2orf78, DUSP11, NAT8, NAT8B, TPRKB
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)essv3690
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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