A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14606266



Internal ID4608082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112883805..112885008hg38UCSC Ensembl
Innerchr12:112883855..112884958hg38UCSC Ensembl
Outerchr12:112883693..112885120hg38UCSC Ensembl
chr12:113321610..113322813hg19UCSC Ensembl
Innerchr12:113321660..113322763hg19UCSC Ensembl
Outerchr12:113321498..113322925hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630789
Supporting Variants
SamplesHG02652
Known GenesRPH3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14606266
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