A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664000



Internal ID9930105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12745324..12747071hg38UCSC Ensembl
chr1:12805272..12807019hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6438790, essv5405133, essv5800624, essv6145854, essv6234108, essv6592404, essv6463242, essv6305105
SamplesNA19397, NA19350, NA19393, NA19396, NA19189, NA18908, NA19375, NA18873
Known GenesC1orf158
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664000
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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