A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14538003



Internal ID6513368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75516548..75530654hg38UCSC Ensembl
Innerchr12:75516599..75530603hg38UCSC Ensembl
Outerchr12:75516497..75530705hg38UCSC Ensembl
chr12:75910328..75924434hg19UCSC Ensembl
Innerchr12:75910379..75924383hg19UCSC Ensembl
Outerchr12:75910277..75924485hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3814107
hg1914107
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630014
Supporting Variants
SamplesNA20538
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14538003
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