A curated catalogue of human genomic structural variation




Variant Details

Variant: esv33869



Internal ID1683218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155223283..155917961hg19UCSC Ensembl
Innerchr1:153489907..154184585hg18UCSC Ensembl
Innerchr1:152036356..152731034hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv92508, essv93312, essv99061, essv94598, essv98404, essv94986, essv98848, essv96651, essv99159, essv93009, essv97450, essv101627, essv93442, essv97768, essv95733, essv94044, essv93940, essv101189, essv101068, essv95304, essv95416, essv100553, essv100639, essv101285, essv92843, essv97832, essv97456, essv96139, essv95989, essv98227, essv94841, essv96490, essv98314, essv95181, essv100260, essv92675, essv95865, essv99966, essv97197
Samples21616, 21944, 22298, 21618, 21938, 22278, 21879, 22170, 21841, 22128, 21932, 21791, 21721, 22352, 21863, 21909, 21656, 22075, 21772, 21802, 21805, 21606, 21911, 21634, 22127, 22086, 22261, 22231, 21939, 22233, 21847, 22011, 22007, 22275, 21693, 22286, 21872, 21837
Known GenesARHGEF2, ASH1L, CLK2, DAP3, FAM189B, FDPS, GON4L, HCN3, KIAA0907, LOC645676, MIR555, MSTO1, MSTO2P, PKLR, POU5F1P4, RIT1, RUSC1, RUSC1-AS1, RXFP4, SCAMP3, SCARNA4, SNORA42, SYT11, YY1AP1
Method
Analysis
PlatformAgilent-015366 Custom Human 244K CGH Microarray
Comments
Referencede_Smith_et_al_2007
Pubmed ID17666407
Accession Number(s)esv33869
Frequency
Sample Size51
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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