A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10968958



Internal ID1141329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30225573..30246574hg38UCSC Ensembl
chr3:30267064..30288065hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3821002
hg1921002
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595732
Supporting Variants
SamplesHG00956
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10968958
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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