A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14614138



Internal ID6599325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117687066..117696981hg38UCSC Ensembl
Innerchr12:117687066..117696981hg38UCSC Ensembl
Outerchr12:117686566..117697481hg38UCSC Ensembl
chr12:118124871..118134786hg19UCSC Ensembl
Innerchr12:118124871..118134786hg19UCSC Ensembl
Outerchr12:118124371..118135286hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg389916
hg199916
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630874
Supporting Variants
SamplesNA20771
Known GenesKSR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14614138
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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