A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12685471



Internal ID5250675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:14240421..14377044hg38UCSC Ensembl
chr7:14280046..14416669hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38136624
hg19136624
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612313
Supporting Variants
SamplesNA18634
Known GenesDGKB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12685471
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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