A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759060



Internal ID9981205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73489905..73851465hg38UCSC Ensembl
Innerchr2:73717032..74078592hg19UCSC Ensembl
Innerchr2:73570540..73932100hg18UCSC Ensembl
Innerchr2:73628687..73990247hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38361561
hg19361561
hg18361561
hg17361561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757806
SamplesNA18947, NA18558, NA18547, NA18945, NA18953, NA18968
Known GenesALMS1, ALMS1P, C2orf78, DUSP11, NAT8, NAT8B, STAMBP, 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)esv2759060
Frequency
Sample Size270
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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