A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14619052



Internal ID4620868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121539588..121542490hg38UCSC Ensembl
Innerchr12:121540088..121541990hg38UCSC Ensembl
Outerchr12:121538588..121543490hg38UCSC Ensembl
chr12:121977493..121980395hg19UCSC Ensembl
Innerchr12:121977993..121979895hg19UCSC Ensembl
Outerchr12:121976493..121981395hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382903
hg192903
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630948
Supporting Variants
SamplesHG01889
Known GenesKDM2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14619052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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