A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12859029



Internal ID2860845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78295321..78432746hg38UCSC Ensembl
chr7:77924638..78062063hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38137426
hg19137426
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613815
Supporting Variants
SamplesNA12748
Known GenesMAGI2, MIR548AU, RPL13AP17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12859029
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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