A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10400287



Internal ID3595852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4518471..4529223hg38UCSC Ensembl
chr2:4566061..4576813hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3810753
hg1910753
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589683
Supporting Variants
SamplesHG03190
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10400287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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