A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336117



Internal ID15183105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204670712..204670739hg38UCSC Ensembl
Innerchr1:204670670..204670781hg38UCSC Ensembl
Outerchr1:204670643..204670808hg38UCSC Ensembl
chr1:204639840..204639867hg19UCSC Ensembl
Innerchr1:204639798..204639909hg19UCSC Ensembl
Outerchr1:204639771..204639936hg19UCSC Ensembl
chr1:202906463..202906490hg18UCSC Ensembl
Innerchr1:202906532..202906421hg18UCSC Ensembl
Outerchr1:202906394..202906559hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863806
SamplesNA12005
Known GenesLRRN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336117
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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