A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660405



Internal ID9579824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62299696..62305084hg38UCSC Ensembl
chr1:62765368..62770755hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385389
hg195388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5736627, essv5574986, essv5661116, essv6145157, essv5427450, essv6588041
SamplesHG00117, HG00187, NA12751, HG00306, HG00138, NA07000
Known GenesKANK4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660405
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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