A curated catalogue of human genomic structural variation




Variant Details

Variant: essv277



Internal ID9624162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:718346..1030145hg38UCSC Ensembl
Innerchr17:621586..933385hg19UCSC Ensembl
Innerchr17:568336..880135hg18UCSC Ensembl
Innerchr17:568336..880135hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38311800
hg19311800
hg18311800
hg17311800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758440
Supporting Variants
SamplesNA18978
Known GenesABR, DBIL5P, FAM57A, GEMIN4, GLOD4, MIR3183, NXN, RNMTL1, TIMM22
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)essv277
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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