A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7769464



Internal ID14910863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:24582442..24582443hg38UCSC Ensembl
Innerchr21:24582420..24582465hg38UCSC Ensembl
Outerchr21:24582419..24582466hg38UCSC Ensembl
chr21:25954756..25954757hg19UCSC Ensembl
Innerchr21:25954734..25954779hg19UCSC Ensembl
Outerchr21:25954733..25954780hg19UCSC Ensembl
chr21:24876627..24876628hg18UCSC Ensembl
Innerchr21:24876650..24876605hg18UCSC Ensembl
Outerchr21:24876604..24876651hg18UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg384471
hg194471
hg184471
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303232
Supporting Variants
SamplesNA19141
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7769464
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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