A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16327674



Internal ID6329490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43550522..43553517hg38UCSC Ensembl
Innerchr21:43550572..43553392hg38UCSC Ensembl
Outerchr21:43550194..43553845hg38UCSC Ensembl
chr21:44970403..44973398hg19UCSC Ensembl
Innerchr21:44970453..44973273hg19UCSC Ensembl
Outerchr21:44970075..44973726hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382996
hg192996
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647107
Supporting Variants
SamplesHG02661
Known GenesHSF2BP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16327674
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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