A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757815



Internal ID9633274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86928789..87742561hg38UCSC Ensembl
Innerchr2:87155912..88042080hg19UCSC Ensembl
Innerchr2:87009423..87823195hg18UCSC Ensembl
Innerchr2:87067570..87881342hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38813773
hg19886169
hg18813773
hg17813773
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759073
Supporting Variantsessv9036, essv15124, essv9400, essv13855, essv10546, essv20777, essv17325, essv3780, essv16787, essv14702, essv21761, essv11526, essv10586, essv10045, essv17455, essv14988, essv22458, essv3531, essv12633, essv23503, essv14959, essv22188, essv24828, essv14492, essv12494, essv16875, essv4465, essv19990, essv16449, essv18448
SamplesNA12146, NA18870, NA07048, NA12761, NA12044, NA19207, NA19159, NA11831, NA19205, NA19202, NA18856, NA12239, NA18853, NA19099, NA19132, NA12043, NA18961, NA19240, NA19173, NA18500, NA18854, NA18872, NA18552, NA19129, NA19139, NA07000, NA07034, NA18965
Known GenesLINC00152, LOC285074, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2, RGPD1, RGPD2
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)esv2757815
Frequency
Sample Size270
Observed Gain13
Observed Loss16
Observed Complex0
Frequencyn/a


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