A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757943



Internal ID9980020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:91025513..91224963hg38UCSC Ensembl
Innerchr4:91946664..92146114hg19UCSC Ensembl
Innerchr4:92165687..92365137hg18UCSC Ensembl
Innerchr4:92303842..92503292hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38199451
hg19199451
hg18199451
hg17199451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759267
Supporting Variantsessv5937
SamplesNA18550
Known GenesCCSER1
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)esv2757943
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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