A curated catalogue of human genomic structural variation




Variant Details

Variant: essv258



Internal ID9623951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:951641..1144486hg38UCSC Ensembl
Innerchr19:951641..1144485hg19UCSC Ensembl
Innerchr19:902641..1095485hg18UCSC Ensembl
Innerchr19:902641..1095485hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38192846
hg19192845
hg18192845
hg17192845
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758485
Supporting Variants
SamplesNA18948
Known GenesABCA7, ARID3A, CNN2, GPX4, GRIN3B, HMHA1, POLR2E, SBNO2, TMEM259, WDR18
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)essv258
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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