A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14551183



Internal ID3025314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82325778..82331203hg38UCSC Ensembl
chr12:82719557..82724982hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg385426
hg195426
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630154
Supporting Variants
SamplesHG02661
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14551183
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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