A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7766484



Internal ID13604583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247446473..247446474hg38UCSC Ensembl
Innerchr1:247446451..247446496hg38UCSC Ensembl
Outerchr1:247446450..247446497hg38UCSC Ensembl
chr1:247609775..247609776hg19UCSC Ensembl
Innerchr1:247609753..247609798hg19UCSC Ensembl
Outerchr1:247609752..247609799hg19UCSC Ensembl
chr1:245676398..245676399hg18UCSC Ensembl
Innerchr1:245676421..245676376hg18UCSC Ensembl
Outerchr1:245676375..245676422hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384429
hg194429
hg184429
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306486
Supporting Variants
SamplesNA12814
Known GenesNLRP3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7766484
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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