A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14345459



Internal ID6620510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5850368..5851684hg38UCSC Ensembl
Innerchr12:5850381..5851672hg38UCSC Ensembl
Outerchr12:5850356..5851697hg38UCSC Ensembl
chr12:5959534..5960850hg19UCSC Ensembl
Innerchr12:5959547..5960838hg19UCSC Ensembl
Outerchr12:5959522..5960863hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381317
hg191317
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628393
Supporting Variants
SamplesNA20786
Known GenesANO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14345459
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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