A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14338167



Internal ID4339983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2966807..2968174hg38UCSC Ensembl
Innerchr12:2966807..2968174hg38UCSC Ensembl
Outerchr12:2966492..2968505hg38UCSC Ensembl
chr12:3075973..3077340hg19UCSC Ensembl
Innerchr12:3075973..3077340hg19UCSC Ensembl
Outerchr12:3075658..3077671hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381368
hg191368
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628333
Supporting Variants
SamplesHG02086
Known GenesTEAD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14338167
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