A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674646



Internal ID9594065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197277095..197278523hg38UCSC Ensembl
chr2:198141819..198143247hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381429
hg191429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6518058, essv6193895, essv6077769
SamplesNA19137, NA18910, NA18856
Known GenesANKRD44
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674646
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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