A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612258



Internal ID6999159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12481852..12525285hg38UCSC Ensembl
chr7:12521478..12564911hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3843434
hg1943434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1264e214
Supporting Variantsessv12683738, essv12683737, essv12683739
SamplesHG03366, NA19113, NA19144
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612258
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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