A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691670



Internal ID14760515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7037141..7053139hg38UCSC Ensembl
Innerchr19:7038141..7052139hg38UCSC Ensembl
Outerchr19:7036141..7054139hg38UCSC Ensembl
chr19:7037152..7053150hg19UCSC Ensembl
Innerchr19:7038152..7052150hg19UCSC Ensembl
Outerchr19:7036152..7054150hg19UCSC Ensembl
chr19:6988152..7004150hg18UCSC Ensembl
Innerchr19:6989152..7003150hg18UCSC Ensembl
Outerchr19:6987152..7005150hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3815999
hg1915999
hg1815999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3328597
Supporting Variants
SamplesNA19240
Known GenesMBD3L2, MBD3L4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691670
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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