A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669051



Internal ID9935156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45404556..45405499hg38UCSC Ensembl
Outerchr1:45404519..45405549hg38UCSC Ensembl
Innerchr1:45870228..45871171hg19UCSC Ensembl
Outerchr1:45870191..45871221hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6336012, essv5975144
SamplesNA19359, NA19346
Known GenesTESK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669051
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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