A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397365



Internal ID14897642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77252574..77253142hg38UCSC Ensembl
Innerchr18:77252574..77253142hg38UCSC Ensembl
Outerchr18:77251764..77254674hg38UCSC Ensembl
chr18:74964530..74965098hg19UCSC Ensembl
Innerchr18:74964530..74965098hg19UCSC Ensembl
Outerchr18:74963720..74966630hg19UCSC Ensembl
chr18:73093518..73094086hg18UCSC Ensembl
Innerchr18:73093518..73094086hg18UCSC Ensembl
Outerchr18:73092708..73095618hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38569
hg19569
hg18569
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652003
SamplesNA19240
Known GenesGALR1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397365
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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