A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9599291



Internal ID13604512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247446464..247446483hg38UCSC Ensembl
Innerchr1:247446460..247446487hg38UCSC Ensembl
Outerchr1:247446441..247446506hg38UCSC Ensembl
chr1:247609766..247609785hg19UCSC Ensembl
Innerchr1:247609762..247609789hg19UCSC Ensembl
Outerchr1:247609743..247609808hg19UCSC Ensembl
chr1:245676389..245676408hg18UCSC Ensembl
Innerchr1:245676412..245676385hg18UCSC Ensembl
Outerchr1:245676366..245676431hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326129
Supporting Variants
SamplesNA12814
Known GenesNLRP3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9599291
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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