A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20617



Internal ID9954676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46332711..47075057hg38UCSC Ensembl
Innerchr10:46476965..47318505hg19UCSC Ensembl
Innerchr10:45896971..46738511hg18UCSC Ensembl
Innerchr10:45896971..46738511hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38742347
hg19841541
hg18841541
hg17841541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758217
Supporting Variants
SamplesNA07056
Known GenesAGAP9, ANXA8, BMS1P1, BMS1P2, BMS1P5, BMS1P6, FAM25C, FAM25G, FAM35BP, FRMPD2P1, GLUD1P7, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, PTPN20A, PTPN20B, SYT15
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)essv20617
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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