A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740972



Internal ID15085560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38318307..38318307hg38UCSC Ensembl
Innerchr1:38318306..38318308hg38UCSC Ensembl
Outerchr1:38318257..38318357hg38UCSC Ensembl
chr1:38783979..38783979hg19UCSC Ensembl
Innerchr1:38783978..38783980hg19UCSC Ensembl
Outerchr1:38783929..38784029hg19UCSC Ensembl
chr1:38556566..38556566hg18UCSC Ensembl
Innerchr1:38556567..38556565hg18UCSC Ensembl
Outerchr1:38556516..38556616hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38218
hg19218
hg18218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3440303
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740972
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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