A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15722779



Internal ID5724595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63933626..63991855hg38UCSC Ensembl
chr17:62010986..62069215hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3858230
hg1958230
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641021
Supporting Variants
SamplesHG03088
Known GenesSCN4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15722779
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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