A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866161



Internal ID12971600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35677370..35677379hg38UCSC Ensembl
Innerchr20:35677351..35677398hg38UCSC Ensembl
Outerchr20:35677342..35677407hg38UCSC Ensembl
chr20:34265292..34265301hg19UCSC Ensembl
Innerchr20:34265273..34265320hg19UCSC Ensembl
Outerchr20:34265264..34265329hg19UCSC Ensembl
chr20:33728706..33728715hg18UCSC Ensembl
Innerchr20:33728734..33728687hg18UCSC Ensembl
Outerchr20:33728678..33728743hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3337733
Supporting Variants
SamplesNA12005
Known GenesNFS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866161
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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