A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866216



Internal ID13318307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38232139..38232149hg38UCSC Ensembl
Innerchr21:38232141..38232147hg38UCSC Ensembl
Outerchr21:38232137..38232151hg38UCSC Ensembl
chr21:39604061..39604071hg19UCSC Ensembl
Innerchr21:39604063..39604069hg19UCSC Ensembl
Outerchr21:39604059..39604073hg19UCSC Ensembl
chr21:38525931..38525941hg18UCSC Ensembl
Innerchr21:38525933..38525939hg18UCSC Ensembl
Outerchr21:38525929..38525943hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3389609
Supporting Variants
SamplesNA12005
Known GenesKCNJ15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866216
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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