A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14603578



Internal ID6484666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108463946..108475709hg38UCSC Ensembl
Innerchr12:108463949..108475706hg38UCSC Ensembl
Outerchr12:108463943..108475712hg38UCSC Ensembl
chr12:108857723..108869486hg19UCSC Ensembl
Innerchr12:108857726..108869483hg19UCSC Ensembl
Outerchr12:108857720..108869489hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3811764
hg1911764
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630706
Supporting Variants
SamplesNA20527
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14603578
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