A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14410197



Internal ID1802704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23135597..23144817hg38UCSC Ensembl
Innerchr12:23135597..23144817hg38UCSC Ensembl
Outerchr12:23135328..23145108hg38UCSC Ensembl
chr12:23288531..23297751hg19UCSC Ensembl
Innerchr12:23288531..23297751hg19UCSC Ensembl
Outerchr12:23288262..23298042hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg389221
hg199221
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628844
Supporting Variants
SamplesHG01679
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14410197
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