A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14629780



Internal ID2378011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128488538..128498992hg38UCSC Ensembl
Innerchr12:128488589..128498941hg38UCSC Ensembl
Outerchr12:128488487..128499043hg38UCSC Ensembl
chr12:128973083..128983537hg19UCSC Ensembl
Innerchr12:128973134..128983486hg19UCSC Ensembl
Outerchr12:128973032..128983588hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3810455
hg1910455
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631141
Supporting Variants
SamplesHG02107
Known GenesTMEM132C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14629780
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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