A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863818



Internal ID13552631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215059150..215059176hg38UCSC Ensembl
Innerchr1:215059119..215059207hg38UCSC Ensembl
Outerchr1:215059093..215059233hg38UCSC Ensembl
chr1:215232493..215232519hg19UCSC Ensembl
Innerchr1:215232462..215232550hg19UCSC Ensembl
Outerchr1:215232436..215232576hg19UCSC Ensembl
chr1:213299116..213299142hg18UCSC Ensembl
Innerchr1:213299173..213299085hg18UCSC Ensembl
Outerchr1:213299059..213299199hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3360711
Supporting Variants
SamplesNA18522
Known GenesKCNK2, MIR548F3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863818
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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