A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14601814



Internal ID6303109
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630680
Supporting Variants
SamplesNA19904
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14601814
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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