A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5472



Internal ID9966331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1389149..1581170hg38UCSC Ensembl
Innerchr1:1324529..1516550hg19UCSC Ensembl
Innerchr1:1314392..1506413hg18UCSC Ensembl
Innerchr1:1409796..1601817hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38192022
hg19192022
hg18192022
hg17192022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757717
Supporting Variants
SamplesNA18632
Known GenesANKRD65, ATAD3A, ATAD3B, ATAD3C, CCNL2, LOC148413, MRPL20, SSU72, TMEM240, TMEM88B, VWA1
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)essv5472
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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