A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14520128



Internal ID6154111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68505172..68509388hg38UCSC Ensembl
Innerchr12:68505172..68509388hg38UCSC Ensembl
Outerchr12:68504897..68509667hg38UCSC Ensembl
chr12:68898952..68903168hg19UCSC Ensembl
Innerchr12:68898952..68903168hg19UCSC Ensembl
Outerchr12:68898677..68903447hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg384217
hg194217
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629849
Supporting Variants
SamplesNA19684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14520128
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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