A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10592739



Internal ID4418809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97671686..97687853hg38UCSC Ensembl
chr2:98288149..98304316hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3816168
hg1916168
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591718
Supporting Variants
SamplesHG03934
Known GenesLINC01125
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10592739
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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