A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14450571



Internal ID2786099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39783512..39791237hg38UCSC Ensembl
Innerchr12:39784012..39790737hg38UCSC Ensembl
Outerchr12:39782512..39792237hg38UCSC Ensembl
chr12:40177314..40185039hg19UCSC Ensembl
Innerchr12:40177814..40184539hg19UCSC Ensembl
Outerchr12:40176314..40186039hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387726
hg197726
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629275
Supporting Variants
SamplesHG02462
Known GenesSLC2A13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14450571
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