A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5617987



Internal ID9763568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51525189..51542826hg38UCSC Ensembl
Outerchr12:51525152..51542876hg38UCSC Ensembl
Innerchr12:51918973..51936610hg19UCSC Ensembl
Outerchr12:51918936..51936660hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3817725
hg1917725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675567
Supporting Variants
SamplesNA19719
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5617987
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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