A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10791842



Internal ID836516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188146842..188225280hg38UCSC Ensembl
chr2:189011569..189090007hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3878439
hg1978439
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593708
Supporting Variants
SamplesHG00428
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10791842
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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