A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673929



Internal ID15071286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226903019..226903043hg38UCSC Ensembl
Innerchr1:226903013..226903047hg38UCSC Ensembl
Outerchr1:226902989..226903073hg38UCSC Ensembl
chr1:227090720..227090744hg19UCSC Ensembl
Innerchr1:227090714..227090748hg19UCSC Ensembl
Outerchr1:227090690..227090774hg19UCSC Ensembl
chr1:225157343..225157367hg18UCSC Ensembl
Innerchr1:225157371..225157337hg18UCSC Ensembl
Outerchr1:225157313..225157397hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434382
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673929
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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