A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9925781



Internal ID6551074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45616829..45630555hg38UCSC Ensembl
chr1:46082501..46096227hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3813727
hg1913727
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585911
Supporting Variants
SamplesHG04200
Known GenesCCDC17, GPBP1L1, NASP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9925781
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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