A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21975



Internal ID9620308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195652612..196344722hg38UCSC Ensembl
Innerchr3:195379483..196071593hg19UCSC Ensembl
Innerchr3:196864664..197555990hg18UCSC Ensembl
Innerchr3:196868577..197559903hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38692111
hg19692111
hg18691327
hg17691327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757913
Supporting Variants
SamplesNA11995
Known GenesLINC00885, MIR570, MIR6829, MUC20, MUC4, PCYT1A, SDHAP1, SDHAP2, SLC51A, TCTEX1D2, TFRC, TM4SF19, TM4SF19-TCTEX1D2, TNK2, ZDHHC19
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)essv21975
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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