A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16229476



Internal ID2552244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63411810..63431038hg38UCSC Ensembl
chr20:62043163..62062391hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3819229
hg1919229
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646317
Supporting Variants
SamplesHG02266
Known GenesKCNQ2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16229476
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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