A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23674



Internal ID9956368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46626575..47792476hg19UCSC Ensembl
Innerchr10:46046581..47262482hg18UCSC Ensembl
Innerchr10:46046581..47262482hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg191165902
hg181215902
hg171215902
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758217
Supporting Variants
SamplesNA10863
Known GenesAGAP9, ANTXRL, ANTXRLP1, ANXA8, ANXA8L1, ANXA8L2, BMS1P1, BMS1P2, BMS1P5, BMS1P6, FAM25B, FAM25C, FAM25G, FAM35BP, FAM35DP, 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)essv23674
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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