A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594557



Internal ID6981877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228519537..228544821hg38UCSC Ensembl
chr2:229384253..229409537hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3825285
hg1925285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10872253, essv10872254, essv10872255
SamplesHG00304, HG03160, HG00266
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594557
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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