A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15764809



Internal ID5766625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81858294..81890680hg38UCSC Ensembl
chr17:79816170..79848556hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3832387
hg1932387
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641407
Supporting Variants
SamplesNA12872
Known GenesALYREF, ARHGDIA, P4HB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15764809
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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