A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12685452



Internal ID2687268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:14021744..14237390hg38UCSC Ensembl
chr7:14061369..14277015hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38215647
hg19215647
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612306
Supporting Variants
SamplesNA18634
Known GenesDGKB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12685452
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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