A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597148



Internal ID6984462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99475386..99497539hg38UCSC Ensembl
chr3:99194230..99216383hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3822154
hg1922154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11082674, essv11082684, essv11082683, essv11082694, essv11082689, essv11082693, essv11082680, essv11082677, essv11082696, essv11082685, essv11082697, essv11082701, essv11082676, essv11082703, essv11082681, essv11082702, essv11082678, essv11082686, essv11082692, essv11082690, essv11082698, essv11082675, essv11082700, essv11082688, essv11082691, essv11082687, essv11082695, essv11082682, essv11082699, essv11082679
SamplesHG00626, HG03812, HG00881, HG01850, HG00671, HG02029, HG01389, HG02061, HG02384, NA18944, NA18635, HG00530, HG00419, HG01851, HG00543, HG02513, HG00500, HG02522, NA18757, HG00531, HG01866, HG01861, HG01432, HG01868, HG02392, NA18609, HG02410, HG00698, NA19080, HG00472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597148
Frequency
Sample Size2504
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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