A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12758791



Internal ID3697924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47030906..47389724hg38UCSC Ensembl
chr7:47070504..47429321hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38358819
hg19358818
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613053
Supporting Variants
SamplesHG03300
Known GenesTNS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12758791
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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