A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1418115



Internal ID12581237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43374952..43375558hg38UCSC Ensembl
chr1:43840623..43841229hg19UCSC Ensembl
chr1:43613210..43613816hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38607
hg19607
hg18607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4247016
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1418115
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