A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759103



Internal ID9634562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178544345..178743515hg38UCSC Ensembl
Innerchr2:179409072..179608242hg19UCSC Ensembl
Innerchr2:179117318..179316487hg18UCSC Ensembl
Innerchr2:179234579..179433748hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38199171
hg19199171
hg18199170
hg17199170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757841
SamplesNA18552
Known GenesMIR548N, TTN, TTN-AS1
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)esv2759103
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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