A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16313664



Internal ID3435632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34011416..34015184hg38UCSC Ensembl
chr21:35383717..35387485hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg383769
hg193769
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646914
Supporting Variants
SamplesHG03069
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16313664
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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