A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14371926



Internal ID1808861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9819645..9825423hg38UCSC Ensembl
Innerchr12:9819652..9825416hg38UCSC Ensembl
Outerchr12:9819638..9825430hg38UCSC Ensembl
chr12:9972241..9978019hg19UCSC Ensembl
Innerchr12:9972248..9978012hg19UCSC Ensembl
Outerchr12:9972234..9978026hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385779
hg195779
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628518
Supporting Variants
SamplesHG01682
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14371926
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