A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3981870



Internal ID11780002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191742374..191742549hg38UCSC Ensembl
chr2:192607100..192607275hg19UCSC Ensembl
chr2:192315345..192315520hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38176
hg19176
hg18176
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1611810
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3981870
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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