A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413778



Internal ID14914051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77470788..77472786hg38UCSC Ensembl
Innerchr10:77471786..77471788hg38UCSC Ensembl
Outerchr10:77469788..77473786hg38UCSC Ensembl
chr10:79230546..79232544hg19UCSC Ensembl
Innerchr10:79231544..79231546hg19UCSC Ensembl
Outerchr10:79229546..79233544hg19UCSC Ensembl
chr10:78900552..78902550hg18UCSC Ensembl
Innerchr10:78901552..78901550hg18UCSC Ensembl
Outerchr10:78899552..78903550hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv462e59
Supporting Variantsessv8688138
SamplesNA19240
Known GenesKCNMA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413778
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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