A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399912



Internal ID14900189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63555296..63555334hg38UCSC Ensembl
Innerchr3:63555302..63555326hg38UCSC Ensembl
Outerchr3:63555264..63555366hg38UCSC Ensembl
chr3:63540972..63541010hg19UCSC Ensembl
Innerchr3:63540978..63541002hg19UCSC Ensembl
Outerchr3:63540940..63541042hg19UCSC Ensembl
chr3:63516012..63516050hg18UCSC Ensembl
Innerchr3:63516042..63516018hg18UCSC Ensembl
Outerchr3:63515980..63516082hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675230
SamplesNA12892
Known GenesSYNPR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399912
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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