A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433872



Internal ID14934141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63101553..63101792hg38UCSC Ensembl
Innerchr20:63101553..63101792hg38UCSC Ensembl
Outerchr20:63101176..63102634hg38UCSC Ensembl
chr20:61732905..61733144hg19UCSC Ensembl
Innerchr20:61732905..61733144hg19UCSC Ensembl
Outerchr20:61732528..61733986hg19UCSC Ensembl
chr20:61203350..61203589hg18UCSC Ensembl
Innerchr20:61203350..61203589hg18UCSC Ensembl
Outerchr20:61202973..61204431hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652125
SamplesNA19240
Known GenesHAR1A, HAR1B
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433872
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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