A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12722385



Internal ID474886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33091449..33149398hg38UCSC Ensembl
chr7:33131061..33189010hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3857950
hg1957950
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612758
Supporting Variants
SamplesHG00155
Known GenesBBS9, RP9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12722385
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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