A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20910



Internal ID9619126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:137892947..138214993hg38UCSC Ensembl
Innerchr3:137611789..137933835hg19UCSC Ensembl
Innerchr3:139094479..139416525hg18UCSC Ensembl
Innerchr3:139094487..139416533hg17UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38322047
hg19322047
hg18322047
hg17322047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757890
Supporting Variants
SamplesNA12801
Known GenesA4GNT, ARMC8, CLDN18, DBR1, DZIP1L
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)essv20910
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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