A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666875



Internal ID9586294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178686892..178687445hg38UCSC Ensembl
chr3:178404680..178405233hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6093258, essv5400920, essv5723717
SamplesHG01491, HG00319, HG01462
Known GenesKCNMB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666875
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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