A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14485449



Internal ID3773748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55096209..55102301hg38UCSC Ensembl
Innerchr12:55096209..55102301hg38UCSC Ensembl
Outerchr12:55095990..55102598hg38UCSC Ensembl
chr12:55489993..55496085hg19UCSC Ensembl
Innerchr12:55489993..55496085hg19UCSC Ensembl
Outerchr12:55489774..55496382hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg386093
hg196093
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629565
Supporting Variants
SamplesHG03410
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14485449
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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