A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15150



Internal ID9974210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129818076..131858730hg38UCSC Ensembl
Innerchr2:130575649..132616303hg19UCSC Ensembl
Innerchr2:130292119..132332773hg18UCSC Ensembl
Innerchr2:130291879..132450035hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg382040655
hg192040655
hg182040655
hg172158157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA19129
Known GenesAMER3, ARHGEF4, C2orf27A, C2orf27B, CCDC115, CCDC74A, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P1, FAR2P2, GPR148, IMP4, LINC01087, LINC01120, LOC150776, LOC389033, LOC401010, LOC440910, LOC646743, MED15P9, MIR4784, MZT2A, MZT2B, PLEKHB2, POTEE, POTEF, POTEI, POTEJ, POTEKP, PTPN18, RAB6C, RAB6C-AS1, RNU6-81P, SMPD4, TISP43, TUBA3D, TUBA3E, WTH3DI
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv15150
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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