A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587726



Internal ID6628027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161241701..161300744hg38UCSC Ensembl
chr1:161211491..161270534hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3859044
hg1959044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10168315
SamplesHG04158
Known GenesPCP4L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587726
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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