A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758349



Internal ID9633808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20747949..21003455hg38UCSC Ensembl
Innerchr14:21216108..21471614hg19UCSC Ensembl
Innerchr14:20285948..20541454hg18UCSC Ensembl
Innerchr14:20285948..20541454hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38255507
hg19255507
hg18255507
hg17255507
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759972
Supporting Variantsessv15573, essv10060, essv8621, essv4240, essv4968, essv17030, essv2004, essv249, essv6711, essv8197, essv10526, essv17046, essv12986, essv16477
SamplesNA18603, NA18949, NA19137, NA19172, NA19239, NA18859, NA18637, NA18948, NA19099, NA18608, NA19240, NA19144, NA19116, NA19139
Known GenesECRP, EDDM3A, EDDM3B, METTL17, RNASE1, RNASE2, RNASE3, RNASE6, SLC39A2
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)esv2758349
Frequency
Sample Size270
Observed Gain5
Observed Loss9
Observed Complex0
Frequencyn/a


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