A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10186537



Internal ID2702680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170091550..170111529hg38UCSC Ensembl
chr1:170060691..170080670hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3819980
hg1919980
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587887
Supporting Variants
SamplesHG02386
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10186537
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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