A curated catalogue of human genomic structural variation




Variant Details

Variant: essv251



Internal ID9623780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97065241..97254844hg38UCSC Ensembl
Innerchr2:97730978..97920581hg19UCSC Ensembl
Innerchr2:97094705..97284347hg18UCSC Ensembl
Innerchr2:97152852..97342494hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38189604
hg19189604
hg18189643
hg17189643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757819
Supporting Variants
SamplesNA18948
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)essv251
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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