A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6518058



Internal ID9495461
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 Flag1
Merged StatusS
Merged Variantsesv2674646
Supporting Variants
SamplesNA18856
Known GenesANKRD44
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6518058
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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