A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325380



Internal ID15172361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93875914..93876139hg38UCSC Ensembl
Innerchr1:93875914..93876139hg38UCSC Ensembl
Outerchr1:93875258..93876919hg38UCSC Ensembl
chr1:94341470..94341695hg19UCSC Ensembl
Innerchr1:94341470..94341695hg19UCSC Ensembl
Outerchr1:94340814..94342475hg19UCSC Ensembl
chr1:94114058..94114283hg18UCSC Ensembl
Innerchr1:94114058..94114283hg18UCSC Ensembl
Outerchr1:94113402..94115063hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38226
hg19226
hg18226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv143e59
Supporting Variantsessv8652102
SamplesNA19240
Known GenesDNTTIP2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325380
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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