A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731641



Internal ID14741377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229453219..229453401hg38UCSC Ensembl
Innerchr1:229453309..229453310hg38UCSC Ensembl
Outerchr1:229453119..229453501hg38UCSC Ensembl
chr1:229588966..229589148hg19UCSC Ensembl
Innerchr1:229589056..229589057hg19UCSC Ensembl
Outerchr1:229588866..229589248hg19UCSC Ensembl
chr1:227655589..227655771hg18UCSC Ensembl
Innerchr1:227655680..227655679hg18UCSC Ensembl
Outerchr1:227655489..227655871hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38183
hg19183
hg18183
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302452
Supporting Variants
SamplesNA19240
Known GenesNUP133
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731641
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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