A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14629779



Internal ID3459031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128387074..128399760hg38UCSC Ensembl
Innerchr12:128387074..128399760hg38UCSC Ensembl
Outerchr12:128386802..128400038hg38UCSC Ensembl
chr12:128871619..128884305hg19UCSC Ensembl
Innerchr12:128871619..128884305hg19UCSC Ensembl
Outerchr12:128871347..128884583hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3812687
hg1912687
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631140
Supporting Variants
SamplesHG03082
Known GenesTMEM132C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14629779
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