A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1502



Internal ID9612581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37855347..38600766hg38UCSC Ensembl
Innerchr17:33289079..34010545hg18UCSC Ensembl
Innerchr17:33289079..34010545hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38745420
hg18721467
hg17721467
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758453
Supporting Variants
SamplesNA18980
Known GenesARHGAP23, GPR179, LOC440434, MRPL45, SOCS7, SRCIN1, TBC1D3, TBC1D3C, TBC1D3F, YWHAEP7
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)essv1502
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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