A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594586



Internal ID6981906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229923756..230024958hg38UCSC Ensembl
Innerchr2:229924256..230024458hg38UCSC Ensembl
Outerchr2:229922756..230025958hg38UCSC Ensembl
chr2:230788472..230889674hg19UCSC Ensembl
Innerchr2:230788972..230889174hg19UCSC Ensembl
Outerchr2:230787472..230890674hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38101203
hg19101203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10873391, essv10873392
SamplesNA12748, HG03160
Known GenesFBXO36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594586
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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