A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21913



Internal ID11039146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81828123..83103548hg38UCSC Ensembl
Innerchr17:79785999..81060000hg19UCSC Ensembl
Innerchr17:77379288..78654713hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381275426
hg191274002
hg181275426
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14822, esv20411, esv14525, esv18867, esv18728, esv20774, esv12397, esv21353, esv18606, esv13201, esv18984, esv15303, esv13575, esv16225, esv15116, esv13390, esv13452, esv9782, esv12572, esv20732, esv14693
SamplesNA18502, NA18861, NA18508, NA12414, NA19190, NA18916, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA12239, NA15510, NA19257, NA19225, NA06985, NA18523, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
Known GenesALYREF, ANAPC11, ARHGDIA, ASPSCR1, B3GNTL1, C17orf62, CCDC57, CD7, CSNK1D, DCXR, DUS1L, FAM195B, FASN, FN3K, FN3KRP, FOXK2, GPS1, HEXDC, LRRC45, MAFG, MAFG-AS1, METRNL, MIR6787, MYADML2, NARF, NOTUM, NPB, OGFOD3, P4HB, PCYT2, PPP1R27, PYCR1, RAB40B, RAC3, RFNG, SECTM1, SIRT7, SLC16A3, STRA13, TBCD, TEX19, UTS2R, WDR45B, ZNF750
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv21913
Frequency
Sample Size40
Observed Gain15
Observed Loss25
Observed Complex0
Frequencyn/a


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