A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20643



Internal ID9961465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46476965..48352142hg19UCSC Ensembl
Innerchr10:45896971..47972148hg18UCSC Ensembl
Innerchr10:45896971..47972148hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg191875178
hg182075178
hg172075178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758217
Supporting Variants
SamplesNA12892
Known GenesAGAP9, ANTXRL, ANTXRLP1, ANXA8, ANXA8L1, ANXA8L2, BMS1P1, BMS1P2, BMS1P5, BMS1P6, CTSLP2, FAM21B, 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)essv20643
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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