A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422220



Internal ID3032309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:139478587..140244550hg19UCSC Ensembl
Innerchr9:138598408..139364371hg18UCSC Ensembl
Innerchr9:136754424..137520387hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5161514
SamplesND01705
Known GenesABCA2, AGPAT2, ANAPC2, C8G, C9orf139, C9orf140, C9orf142, C9orf167, C9orf169, C9orf172, C9orf173, C9orf86, CLIC3, COBRA1, DPP7, EDF1, EGFL7, ENTPD2, EXD3, FAM166A, FAM69B, FBXW5, FUT7, GRIN1, KIAA1984, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LOC100128593, LOC100129722, LOC100131193, LOC100289341, LRRC26, MAMDC4, MAN1B1, MIR126, MIR3621, MIR4292, MIR4479, NDOR1, NPDC1, NRARP, PHPT1, PTGDS, RNF208, RNF224, SLC34A3, SNHG7, SNORA17, SNORA43, SSNA1, TMEM141, TMEM203, TPRN, TRAF2, TUBB2C, UAP1L1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422220
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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