A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628264



Internal ID6668407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:947952..950314hg38UCSC Ensembl
Innerchr12:947952..950314hg38UCSC Ensembl
Outerchr12:947818..950499hg38UCSC Ensembl
chr12:1057118..1059480hg19UCSC Ensembl
Innerchr12:1057118..1059480hg19UCSC Ensembl
Outerchr12:1056984..1059665hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382363
hg192363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14332516
SamplesHG01054
Known GenesRAD52
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628264
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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