A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2905



Internal ID9624313
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758453
Supporting Variants
SamplesNA18953
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)essv2905
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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