A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14395067



Internal ID6612712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15272300..15295466hg38UCSC Ensembl
Innerchr12:15272311..15295456hg38UCSC Ensembl
Outerchr12:15272290..15295477hg38UCSC Ensembl
chr12:15425234..15448400hg19UCSC Ensembl
Innerchr12:15425245..15448390hg19UCSC Ensembl
Outerchr12:15425224..15448411hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3823167
hg1923167
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628665
Supporting Variants
SamplesNA20778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14395067
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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