A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758529



Internal ID9980606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13262211..13967431hg38UCSC Ensembl
Innerchr21:14634532..15339752hg19UCSC Ensembl
Innerchr21:13556403..14261623hg18UCSC Ensembl
Innerchr21:13556403..14261623hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38705221
hg19705221
hg18705221
hg17705221
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758809
Supporting Variantsessv24867, essv17936, essv7574, essv5347, essv562, essv10519, essv16061, essv175, essv19560, essv5592, essv13581, essv21809, essv5450, essv30, essv6920, essv10331, essv24226, essv14569, essv906, essv21225, essv13658, essv24664, essv838, essv2898, essv22403, essv4791, essv1726, essv4662
SamplesNA18998, NA11830, NA11829, NA18545, NA18563, NA19127, NA19119, NA18973, NA18605, NA12003, NA18991, NA18529, NA11839, NA19202, NA19000, NA10856, NA18953, NA18632, NA12864, NA19240, NA18594, NA18501, NA18506, NA12875, NA18968, NA07000, NA18620, NA18997
Known GenesANKRD20A11P, C21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
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)esv2758529
Frequency
Sample Size270
Observed Gain19
Observed Loss9
Observed Complex0
Frequencyn/a


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