A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24225



Internal ID9622809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97025303..97254844hg38UCSC Ensembl
Innerchr2:97691040..97920581hg19UCSC Ensembl
Innerchr2:97054767..97284347hg18UCSC Ensembl
Innerchr2:97112914..97342494hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38229542
hg19229542
hg18229581
hg17229581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757819
Supporting Variants
SamplesNA10856
Known GenesANKRD36, FAHD2B
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)essv24225
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