A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673718



Internal ID13739179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101304482..101304518hg38UCSC Ensembl
Innerchr1:101304486..101304512hg38UCSC Ensembl
Outerchr1:101304452..101304548hg38UCSC Ensembl
chr1:101770038..101770074hg19UCSC Ensembl
Innerchr1:101770042..101770068hg19UCSC Ensembl
Outerchr1:101770008..101770104hg19UCSC Ensembl
chr1:101542626..101542662hg18UCSC Ensembl
Innerchr1:101542656..101542630hg18UCSC Ensembl
Outerchr1:101542596..101542692hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364876
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673718
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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