A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10442258



Internal ID1141370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30649729..30659426hg38UCSC Ensembl
chr2:30872595..30882292hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg389698
hg199698
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590204
Supporting Variants
SamplesHG00956
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10442258
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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