A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663887



Internal ID9583306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110187649..110188317hg38UCSC Ensembl
chr2:110945226..110945894hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6175612, essv5824145, essv6113471
SamplesHG00657, HG00684, HG00702
Known GenesNPHP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663887
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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