A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14557987



Internal ID4685669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85871427..85894460hg38UCSC Ensembl
Innerchr12:85871927..85893960hg38UCSC Ensembl
Outerchr12:85870427..85895460hg38UCSC Ensembl
chr12:86265205..86288238hg19UCSC Ensembl
Innerchr12:86265705..86287738hg19UCSC Ensembl
Outerchr12:86264205..86289238hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3823034
hg1923034
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630250
Supporting Variants
SamplesHG04210
Known GenesNTS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14557987
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