A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2422427

Internal ID3032182
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:60001..2773165hg19UCSC Ensembl
Innerchr16:1..2713166hg18UCSC Ensembl
Innerchr16:1..2713166hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV Duplication
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5161408
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
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip
Pubmed ID17116639
Accession Number(s)esv2422427
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0

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