A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302775



Internal ID15149723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229453230..229453411hg38UCSC Ensembl
Innerchr1:229453320..229453320hg38UCSC Ensembl
Outerchr1:229453130..229453511hg38UCSC Ensembl
chr1:229588977..229589158hg19UCSC Ensembl
Innerchr1:229589067..229589067hg19UCSC Ensembl
Outerchr1:229588877..229589258hg19UCSC Ensembl
chr1:227655600..227655781hg18UCSC Ensembl
Innerchr1:227655690..227655690hg18UCSC Ensembl
Outerchr1:227655500..227655881hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38182
hg19182
hg18182
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv299e59
Supporting Variantsessv7738043, essv7733183, essv7733973, essv7737187, essv7739105, essv7735723, essv7733439, essv7738692, essv7732580, essv7733598, essv7733575, essv7738483
SamplesNA18861, NA18510, NA07346, NA19138, NA19238, NA18853, NA19099, NA18523, NA19108, NA19147, NA19240, NA19102
Known GenesNUP133
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302775
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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