A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863740



Internal ID12969514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110321366..110321401hg38UCSC Ensembl
Innerchr1:110321314..110321453hg38UCSC Ensembl
Outerchr1:110321279..110321488hg38UCSC Ensembl
chr1:110863988..110864023hg19UCSC Ensembl
Innerchr1:110863936..110864075hg19UCSC Ensembl
Outerchr1:110863901..110864110hg19UCSC Ensembl
chr1:110665511..110665546hg18UCSC Ensembl
Innerchr1:110665598..110665459hg18UCSC Ensembl
Outerchr1:110665424..110665633hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334121
Supporting Variants
SamplesNA12005
Known GenesLOC440600
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863740
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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