A curated catalogue of human genomic structural variation




Variant Details

Variant: esv33784



Internal ID1683133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:153228116..154929249hg19UCSC Ensembl
InnerchrX:152881310..154582443hg18UCSC Ensembl
InnerchrX:152748963..154492953hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv99147, essv99811, essv97560, essv92519, essv97830, essv98905, essv97847, essv93751, essv93062, essv101083, essv93251, essv95520, essv99132, essv101495, essv99194, essv99195, essv99898, essv98239, essv100749, essv100070, essv93448, essv93823, essv94305, essv98072, essv98413, essv100763, essv99940, essv100909, essv99762, essv96766, essv94894, essv99778, essv95848, essv99712, essv98269, essv96988, essv97416, essv100771, essv94872, essv93242, essv95218, essv100869, essv94845, essv100117, essv101261, essv97087, essv99837, essv96055, essv99835, essv94959, essv99421, essv99306, essv101736, essv95671, essv98611, essv99907, essv97586, essv101350, essv96807, essv95796, essv99823, essv93991, essv96765, essv100638, essv100870, essv95840, essv92994, essv92934, essv94847, essv100289, essv96232, essv100818, essv96489, essv94556, essv100618, essv99798
Samples21616, 21972, 22298, 21603, 21618, 21938, 22085, 21879, 22170, 21817, 21841, 22128, 21932, 22259, 21721, 22352, 21863, 21909, 21656, 22075, 21772, 22335, 21802, 21805, 21606, 21911, 21634, 22127, 22086, 21808, 22217, 22261, 22231, 21939, 22233, 21847, 22007, 22275, 21693, 21659, 22286, 21837, 22300
Known GenesATP6AP1, BRCC3, CLIC2, CTAG1A, CTAG1B, CTAG2, CXorf68, DKC1, DNASE1L1, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AFB1, H2AFB2, H2AFB3, HCFC1, IKBKG, IRAK1, LAGE3, LINC00204A, LINC00204B, LOC100507404, MECP2, MIR1184-1, MIR1184-2, MIR1184-3, MIR3202-1, MIR3202-2, MIR718, MPP1, MTCP1, MTCP1NB, OPN1LW, OPN1MW, OPN1MW2, PLXNA3, RAB39B, RPL10, SLC10A3, SNORA36A, SNORA56, SNORA70, TAZ, TEX28, TKTL1, TMEM187, TMLHE, UBL4A, VBP1
Method
Analysis
PlatformAgilent-015366 Custom Human 244K CGH Microarray
Comments
Referencede_Smith_et_al_2007
Pubmed ID17666407
Accession Number(s)esv33784
Frequency
Sample Size51
Observed Gain2
Observed Loss43
Observed Complex0
Frequencyn/a


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