A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666510



Internal ID9585929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247548963..247568887hg38UCSC Ensembl
Innerchr1:247712265..247732189hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3819925
hg1919925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5726176
SamplesNA19239
Known GenesGCSAML
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666510
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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