A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10636886



Internal ID1560582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:116695713..116741650hg38UCSC Ensembl
chr2:117453289..117499226hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3845938
hg1945938
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592101
Supporting Variants
SamplesHG01441
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10636886
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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