A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3611504



Internal ID12150364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20816056..20816498hg38UCSC Ensembl
chr1:21142549..21142991hg19UCSC Ensembl
chr1:21015136..21015578hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38443
hg19443
hg18443
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1356855
Supporting Variants
SamplesHuRef
Known GenesEIF4G3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3611504
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