A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647108



Internal ID6687164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43611745..43624659hg38UCSC Ensembl
chr21:45031626..45044540hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3812915
hg1912915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16328900
SamplesHG02325
Known GenesHSF2BP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647108
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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