A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863730



Internal ID12969496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:97086769..97086774hg38UCSC Ensembl
Innerchr1:97086760..97086783hg38UCSC Ensembl
Outerchr1:97086755..97086788hg38UCSC Ensembl
chr1:97552325..97552330hg19UCSC Ensembl
Innerchr1:97552316..97552339hg19UCSC Ensembl
Outerchr1:97552311..97552344hg19UCSC Ensembl
chr1:97324913..97324918hg18UCSC Ensembl
Innerchr1:97324927..97324904hg18UCSC Ensembl
Outerchr1:97324899..97324932hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450982
Supporting Variants
SamplesNA12005
Known GenesDPYD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863730
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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