A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594726



Internal ID6982046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236478344..236524263hg38UCSC Ensembl
chr2:237386987..237432906hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3845920
hg1945920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10885220, essv10885219
SamplesHG03432, HG02053
Known GenesIQCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594726
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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