A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14596807



Internal ID2439864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104052911..104055127hg38UCSC Ensembl
Innerchr12:104052945..104055093hg38UCSC Ensembl
Outerchr12:104052877..104055161hg38UCSC Ensembl
chr12:104446689..104448905hg19UCSC Ensembl
Innerchr12:104446723..104448871hg19UCSC Ensembl
Outerchr12:104446655..104448939hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382217
hg192217
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630625
Supporting Variants
SamplesHG02150
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14596807
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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