A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10872625



Internal ID3570033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228954926..228982976hg38UCSC Ensembl
chr2:229819642..229847692hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3828051
hg1928051
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594567
Supporting Variants
SamplesHG03160
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10872625
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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