A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12685457



Internal ID5250369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:14069653..14139221hg38UCSC Ensembl
chr7:14109278..14178846hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3869569
hg1969569
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612308
Supporting Variants
SamplesNA18634
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12685457
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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