A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757832



Internal ID9979909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127073367..127248938hg38UCSC Ensembl
Innerchr2:127830943..128006514hg19UCSC Ensembl
Innerchr2:127547413..127722984hg18UCSC Ensembl
Innerchr2:127547173..127722744hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38175572
hg19175572
hg18175572
hg17175572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759090
Supporting Variantsessv14488, essv9742, essv16027
SamplesNA19202, NA18913, NA18501
Known GenesBIN1, CYP27C1
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)esv2757832
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer