A curated catalogue of human genomic structural variation




Variant Details

Variant: esv32909



Internal ID1684031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:47862773..49142108hg19UCSC Ensembl
InnerchrX:47747717..49029052hg18UCSC Ensembl
InnerchrX:47619027..48898479hg17UCSC Ensembl
CytobandXp11.23
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 Variantsessv97275, essv101014, essv99915, essv100788
Samples21656, 22075, 22086, 21693
Known GenesCACNA1F, CCDC120, CCDC22, EBP, ERAS, FOXP3, FTSJ1, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, LOC100509575, MAGIX, OTUD5, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SLC35A2, SLC38A5, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SSX6, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, WAS, WDR13, WDR45, ZNF182, ZNF630
Method
Analysis
PlatformAgilent-015366 Custom Human 244K CGH Microarray
Comments
Referencede_Smith_et_al_2007
Pubmed ID17666407
Accession Number(s)esv32909
Frequency
Sample Size51
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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