A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14567768



Internal ID2055894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91220323..91224716hg38UCSC Ensembl
Innerchr12:91220823..91224216hg38UCSC Ensembl
Outerchr12:91219323..91225716hg38UCSC Ensembl
chr12:91614100..91618493hg19UCSC Ensembl
Innerchr12:91614600..91617993hg19UCSC Ensembl
Outerchr12:91613100..91619493hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg384394
hg194394
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630351
Supporting Variants
SamplesHG01874
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14567768
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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