A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359448



Internal ID15206427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204062892..204062933hg38UCSC Ensembl
Innerchr1:204062894..204062931hg38UCSC Ensembl
Outerchr1:204062890..204062935hg38UCSC Ensembl
chr1:204032020..204032061hg19UCSC Ensembl
Innerchr1:204032022..204032059hg19UCSC Ensembl
Outerchr1:204032018..204032063hg19UCSC Ensembl
chr1:202298643..202298684hg18UCSC Ensembl
Innerchr1:202298645..202298682hg18UCSC Ensembl
Outerchr1:202298641..202298686hg18UCSC 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 Variantsessv7863804
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359448
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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