A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12859031



Internal ID4910154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78436846..78566365hg38UCSC Ensembl
chr7:78066163..78195682hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38129520
hg19129520
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613817
Supporting Variants
SamplesNA12748
Known GenesMAGI2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12859031
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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