A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759147



Internal ID9634606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46638962..46930999hg38UCSC Ensembl
Innerchr3:46680452..46972489hg19UCSC Ensembl
Innerchr3:46655456..46947493hg18UCSC Ensembl
Innerchr3:46655456..46947493hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38292038
hg19292038
hg18292038
hg17292038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757869
SamplesNA19207, NA19194, NA19192, NA19222, NA19093, NA18500, NA18859, NA19223, NA19144, NA19208, NA19140, NA19239, NA19100, NA19129, NA19094, NA19206, NA19238, NA19098, NA19145, NA19101, NA19193, NA19128, NA19099, NA12003, NA19205, NA18852, NA19130, NA19240, NA19204, NA19092
Known GenesALS2CL, CCDC12, MYL3, PRSS42, PRSS45, PRSS46, PRSS50, PTH1R, TMIE
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)esv2759147
Frequency
Sample Size270
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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