A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758629



Internal ID9634088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:9967119..10163693hg38UCSC Ensembl
Innerchr16:10060976..10257550hg19UCSC Ensembl
Innerchr16:9968477..10165051hg18UCSC Ensembl
Innerchr16:9968477..10165051hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38196575
hg19196575
hg18196575
hg17196575
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758410
SamplesNA19142, NA12762
Known GenesGRIN2A
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)esv2758629
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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