A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621445



Internal ID4623261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122408936..122411238hg38UCSC Ensembl
Innerchr12:122408936..122411238hg38UCSC Ensembl
Outerchr12:122408727..122411426hg38UCSC Ensembl
chr12:122893483..122895785hg19UCSC Ensembl
Innerchr12:122893483..122895785hg19UCSC Ensembl
Outerchr12:122893274..122895973hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382303
hg192303
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630975
Supporting Variants
SamplesHG01051
Known GenesCLIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621445
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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