A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079712



Internal ID81528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114684453..114702903hg38UCSC Ensembl
chr1:115227074..115245524hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3818451
hg1918451
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587274
Supporting Variants
SamplesNA18523
Known GenesAMPD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079712
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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