A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8977357



Internal ID14127915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38121682..38121739hg38UCSC Ensembl
Innerchr21:38121668..38121753hg38UCSC Ensembl
Outerchr21:38121611..38121810hg38UCSC Ensembl
chr21:39493776..39493833hg19UCSC Ensembl
Innerchr21:39493762..39493847hg19UCSC Ensembl
Outerchr21:39493705..39493904hg19UCSC Ensembl
chr21:38415646..38415703hg18UCSC Ensembl
Innerchr21:38415717..38415632hg18UCSC Ensembl
Outerchr21:38415575..38415774hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3338824
Supporting Variants
SamplesNA18942
Known GenesDSCR8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8977357
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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