A curated catalogue of human genomic structural variation




Variant Details

Variant: esv33199



Internal ID1684321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:152234100..153820241hg19UCSC Ensembl
InnerchrX:151984757..153473435hg18UCSC Ensembl
InnerchrX:151904669..153383945hg17UCSC 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 Variantsessv99865, essv99355, essv97615, essv97996, essv95146, essv95497, essv92741, essv95620, essv92945, essv100366, essv97885, essv98487, essv94960, essv99275, essv99916, essv93189, essv101280, essv95039, essv98449, essv96861, essv98886, essv98841, essv96423, essv99937, essv100126, essv99730, essv93603, essv94728, essv97015, essv94397, essv100088, essv96649, essv95263, essv97702, essv100017, essv96138, essv95679, essv97274, essv97986, essv97574, essv95923, essv96701, essv99303, essv93549, essv100753, essv97471, essv97393, essv94918, essv98750, essv99471, essv100895, essv99470, essv100866, essv99998, essv95586, essv99788, essv94129, essv99870, essv96689, essv99162, essv95049, essv96302, essv96475, essv99116, essv101292, essv93700, essv98316
Samples21616, 22371, 21944, 21972, 21938, 22278, 21879, 22170, 21817, 21841, 22128, 22259, 21791, 21721, 22352, 21656, 22075, 21772, 22335, 21802, 21805, 21606, 21911, 22086, 21808, 22217, 22261, 22231, 21939, 21847, 22011, 22007, 22275, 21659, 22286, 21872, 21837, 22300
Known GenesABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, CTAG1A, CTAG1B, DNASE1L1, DUSP9, EMD, FAM3A, FAM50A, FAM58A, FLNA, G6PD, GDI1, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, LINC00204A, LINC00204B, MAGEA1, MECP2, MIR3202-1, MIR3202-2, MIR718, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA6A, PNMA6C, PNMA6D, RENBP, RPL10, SLC10A3, SLC6A8, SNORA70, SRPK3, SSR4, TAZ, TEX28, TKTL1, TMEM187, TREX2, UBL4A, ZFP92, ZNF275
Method
Analysis
PlatformAgilent-015366 Custom Human 244K CGH Microarray
Comments
Referencede_Smith_et_al_2007
Pubmed ID17666407
Accession Number(s)esv33199
Frequency
Sample Size51
Observed Gain3
Observed Loss38
Observed Complex0
Frequencyn/a


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