A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5376



Internal ID9627058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188829..929902hg38UCSC Ensembl
Innerchr2:188829..925588hg19UCSC Ensembl
Innerchr2:178829..915588hg18UCSC Ensembl
Innerchr2:178829..915588hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38741074
hg19736760
hg18736760
hg17736760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757782
Supporting Variants
SamplesNA18563
Known GenesACP1, FAM150B, LINC01115, SH3YL1, TMEM18
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)essv5376
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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