A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13727



Internal ID9611144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129818076..130238427hg38UCSC Ensembl
Innerchr2:130575649..130996000hg19UCSC Ensembl
Innerchr2:130292119..130712470hg18UCSC Ensembl
Innerchr2:130291879..130712230hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38420352
hg19420352
hg18420352
hg17420352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA19119
Known GenesCCDC74B, FAR2P1, LOC389033, MED15P9, MZT2B, POTEF, RAB6C, RAB6C-AS1, SMPD4, TUBA3E
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)essv13727
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer