A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365455



Internal ID14865715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7036741..7053339hg38UCSC Ensembl
Innerchr19:7037741..7052339hg38UCSC Ensembl
Outerchr19:7035741..7054339hg38UCSC Ensembl
chr19:7036752..7053350hg19UCSC Ensembl
Innerchr19:7037752..7052350hg19UCSC Ensembl
Outerchr19:7035752..7054350hg19UCSC Ensembl
chr19:6987752..7004350hg18UCSC Ensembl
Innerchr19:6988752..7003350hg18UCSC Ensembl
Outerchr19:6986752..7005350hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3816599
hg1916599
hg1816599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1984e59
Supporting Variantsessv8691669
SamplesNA12891
Known GenesMBD3L2, MBD3L4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365455
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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