A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758743



Internal ID9634202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:951641..1544934hg38UCSC Ensembl
Innerchr19:951641..1544933hg19UCSC Ensembl
Innerchr19:902641..1495933hg18UCSC Ensembl
Innerchr19:902641..1495933hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38593294
hg19593293
hg18593293
hg17593293
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758485
SamplesNA18948, NA18943, NA18522, NA12057
Known GenesABCA7, ADAMTSL5, APC2, ARID3A, ATP5D, C19orf24, C19orf25, C19orf26, CIRBP, CIRBP-AS1, CNN2, DAZAP1, EFNA2, GAMT, GPX4, GRIN3B, HMHA1, MIDN, MUM1, NDUFS7, PCSK4, PLK5, POLR2E, REEP6, RPS15, SBNO2, STK11, 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)esv2758743
Frequency
Sample Size270
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer