A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14422689



Internal ID4930875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28958795..28959542hg38UCSC Ensembl
Innerchr12:28958795..28959542hg38UCSC Ensembl
Outerchr12:28958440..28959841hg38UCSC Ensembl
chr12:29111728..29112475hg19UCSC Ensembl
Innerchr12:29111728..29112475hg19UCSC Ensembl
Outerchr12:29111373..29112774hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628983
Supporting Variants
SamplesNA12775
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14422689
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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