A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7758924



Internal ID14538240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38121661..38121662hg38UCSC Ensembl
Innerchr21:38121555..38121768hg38UCSC Ensembl
Outerchr21:38121554..38121769hg38UCSC Ensembl
chr21:39493755..39493756hg19UCSC Ensembl
Innerchr21:39493649..39493862hg19UCSC Ensembl
Outerchr21:39493648..39493863hg19UCSC Ensembl
chr21:38415625..38415626hg18UCSC Ensembl
Innerchr21:38415732..38415519hg18UCSC Ensembl
Outerchr21:38415518..38415733hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304050
Supporting Variants
SamplesNA19129
Known GenesDSCR8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7758924
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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