A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372391



Internal ID15219367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16708270..16765568hg38UCSC Ensembl
Innerchr1:16709270..16764568hg38UCSC Ensembl
Outerchr1:16707270..16766568hg38UCSC Ensembl
chr1:17034765..17092063hg19UCSC Ensembl
Innerchr1:17035765..17091063hg19UCSC Ensembl
Outerchr1:17033765..17093063hg19UCSC Ensembl
chr1:16907352..16964650hg18UCSC Ensembl
Innerchr1:16908352..16963650hg18UCSC Ensembl
Outerchr1:16906352..16965650hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3857299
hg1957299
hg1857299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692045
SamplesNA19240
Known GenesESPNP, LOC729574, MST1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372391
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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