A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19974



Internal ID9960525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46332711..46925856hg38UCSC Ensembl
Innerchr10:46626575..47318505hg19UCSC Ensembl
Innerchr10:46046581..46738511hg18UCSC Ensembl
Innerchr10:46046581..46738511hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38593146
hg19691931
hg18691931
hg17691931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758217
Supporting Variants
SamplesNA12813
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)essv19974
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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