A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14623668



Internal ID2211922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124882946..124884236hg38UCSC Ensembl
Innerchr12:124882962..124884220hg38UCSC Ensembl
Outerchr12:124882930..124884252hg38UCSC Ensembl
chr12:125367492..125368782hg19UCSC Ensembl
Innerchr12:125367508..125368766hg19UCSC Ensembl
Outerchr12:125367476..125368798hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381291
hg191291
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631027
Supporting Variants
SamplesHG01989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14623668
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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