A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440280



Internal ID14940547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38130454..38131929hg38UCSC Ensembl
Innerchr19:38130454..38131929hg38UCSC Ensembl
Outerchr19:38130141..38131943hg38UCSC Ensembl
chr19:38621094..38622569hg19UCSC Ensembl
Innerchr19:38621094..38622569hg19UCSC Ensembl
Outerchr19:38620781..38622583hg19UCSC Ensembl
chr19:43312934..43314409hg18UCSC Ensembl
Innerchr19:43312934..43314409hg18UCSC Ensembl
Outerchr19:43312621..43314423hg18UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg381476
hg191476
hg181476
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652020
SamplesNA19240
Known GenesSIPA1L3
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440280
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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