A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14422674



Internal ID3359580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28937555..28945816hg38UCSC Ensembl
Innerchr12:28937555..28945816hg38UCSC Ensembl
Outerchr12:28937503..28945990hg38UCSC Ensembl
chr12:29090488..29098749hg19UCSC Ensembl
Innerchr12:29090488..29098749hg19UCSC Ensembl
Outerchr12:29090436..29098923hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg388262
hg198262
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628982
Supporting Variants
SamplesHG03012
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14422674
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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