A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3352599



Internal ID15199580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61393149..61393887hg38UCSC Ensembl
Innerchr1:61393149..61393887hg38UCSC Ensembl
Outerchr1:61392383..61394050hg38UCSC Ensembl
chr1:61858821..61859559hg19UCSC Ensembl
Innerchr1:61858821..61859559hg19UCSC Ensembl
Outerchr1:61858055..61859722hg19UCSC Ensembl
chr1:61631409..61632147hg18UCSC Ensembl
Innerchr1:61631409..61632147hg18UCSC Ensembl
Outerchr1:61630643..61632310hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38739
hg19739
hg18739
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652094
SamplesNA19240
Known GenesNFIA
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3352599
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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