A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14630033



Internal ID4631849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128817880..128819875hg38UCSC Ensembl
Innerchr12:128817914..128819841hg38UCSC Ensembl
Outerchr12:128817846..128819909hg38UCSC Ensembl
chr12:129302425..129304420hg19UCSC Ensembl
Innerchr12:129302459..129304386hg19UCSC Ensembl
Outerchr12:129302391..129304454hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381996
hg191996
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631152
Supporting Variants
SamplesNA18951
Known GenesSLC15A4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14630033
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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