A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21437



Internal ID9619711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70903015..71093885hg38UCSC Ensembl
Innerchr5:70198842..70389712hg19UCSC Ensembl
Innerchr5:70234598..70425468hg18UCSC Ensembl
Innerchr5:70234598..70425468hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38190871
hg19190871
hg18190871
hg17190871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757998
Supporting Variants
SamplesNA12717
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP, SERF1A, SERF1B, SMN1, SMN2
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)essv21437
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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