A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14622603



Internal ID2082399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124240909..124242164hg38UCSC Ensembl
Innerchr12:124240909..124242164hg38UCSC Ensembl
Outerchr12:124240563..124242602hg38UCSC Ensembl
chr12:124725455..124726710hg19UCSC Ensembl
Innerchr12:124725455..124726710hg19UCSC Ensembl
Outerchr12:124725109..124727148hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381256
hg191256
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631008
Supporting Variants
SamplesHG01890
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14622603
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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