A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12683728



Internal ID4655584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12413845..12454620hg38UCSC Ensembl
chr7:12453471..12494246hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3840776
hg1940776
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612251
Supporting Variants
SamplesHG04185
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12683728
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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