A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13012719



Internal ID3014535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:151282115..151376312hg38UCSC Ensembl
chr7:150979201..151073398hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3894198
hg1994198
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615478
Supporting Variants
SamplesNA19307
Known GenesNUB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13012719
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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