A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597130



Internal ID6984444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99052037..99180176hg38UCSC Ensembl
chr3:98770881..98899020hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38128140
hg19128140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv915e214
Supporting Variantsessv11078866, essv11078867, essv11078868
SamplesHG00592, HG02047, HG01432
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597130
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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