A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759180



Internal ID9634639
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 StatusM
Merged Variants
Supporting Variantsesv2757890
SamplesNA12249, NA12801, NA12752, NA19120, NA18603, NA11840, NA18563, NA18609, NA12234, NA18537, NA18620, NA18968, NA10857, NA12874, NA10861
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)esv2759180
Frequency
Sample Size270
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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