A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630680



Internal ID6670814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106300835..106301906hg38UCSC Ensembl
Innerchr12:106300835..106301906hg38UCSC Ensembl
Outerchr12:106300746..106301933hg38UCSC Ensembl
chr12:106694613..106695684hg19UCSC Ensembl
Innerchr12:106694613..106695684hg19UCSC Ensembl
Outerchr12:106694524..106695711hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381072
hg191072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14601814
SamplesNA19904
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630680
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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