A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14568897



Internal ID2356105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92234335..92242221hg38UCSC Ensembl
Innerchr12:92234349..92242208hg38UCSC Ensembl
Outerchr12:92234322..92242235hg38UCSC Ensembl
chr12:92628111..92635997hg19UCSC Ensembl
Innerchr12:92628125..92635984hg19UCSC Ensembl
Outerchr12:92628098..92636011hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg387887
hg197887
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630377
Supporting Variants
SamplesHG02087
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14568897
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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