A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422427



Internal ID3032182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:60001..2773165hg19UCSC Ensembl
Innerchr16:1..2713166hg18UCSC Ensembl
Innerchr16:1..2713166hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Duplication
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5161408
SamplesND01684
Known GenesABCA17P, ABCA3, AMDHD2, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, C16orf11, C16orf13, C16orf42, C16orf59, C16orf73, C16orf79, C16orf91, C1QTNF8, CACNA1H, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CHTF18, CLCN7, CRAMP1L, DDX11L10, DECR2, DNASE1L2, E4F1, ECI1, EME2, FAHD1, FAM173A, FAM195A, FBXL16, FLJ42627, GFER, GNG13, GNPTG, HAGH, HAGHL, HBA1, HBA2, HBM, HBQ1, HBZ, HN1L, HS3ST6, IFT140, IGFALS, ITFG3, JMJD8, KCTD5, LINC00235, LINC00254, LMF1, LOC100134368, LOC100288778, LOC100507321, LOC146336, LOC652276, LUC7L, MAPK8IP3, METRN, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR4516, MIR4717, MIR662, MIR940, MLST8, MPG, MRPL28, MRPS34, MSLN, MSLNL, NARFL, NDUFB10, NHLRC4, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, PDIA2, PDPK1, PGP, PIGQ, PKD1, POLR3K, PRR25, PRSS27, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SEPX1, SLC9A3R2, SNHG9, SNORA10, SNORA64, SNORA78, SNORD60, SNRNP25, SOLH, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TELO2, TMEM204, TMEM8A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TSC2, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZNF598
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)esv2422427
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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