A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14337200



Internal ID5743903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2011546..2027240hg38UCSC Ensembl
Innerchr12:2011557..2027229hg38UCSC Ensembl
Outerchr12:2011535..2027251hg38UCSC Ensembl
chr12:2120712..2136406hg19UCSC Ensembl
Innerchr12:2120723..2136395hg19UCSC Ensembl
Outerchr12:2120701..2136417hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3815695
hg1915695
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628301
Supporting Variants
SamplesNA19117
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14337200
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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