A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16345387



Internal ID6347203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46189814..46191090hg38UCSC Ensembl
Innerchr21:46189819..46191085hg38UCSC Ensembl
Outerchr21:46189809..46191095hg38UCSC Ensembl
chr21:47609728..47611004hg19UCSC Ensembl
Innerchr21:47609733..47610999hg19UCSC Ensembl
Outerchr21:47609723..47611009hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381277
hg191277
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647164
Supporting Variants
SamplesHG03095
Known GenesLSS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16345387
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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