A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663676



Internal ID9583095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42182975..42187179hg38UCSC Ensembl
chr1:42648646..42652850hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384205
hg194205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6395305, essv5986842, essv5636202
SamplesHG01052, NA19213, NA18502
Known GenesFOXJ3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663676
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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