A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674020



Internal ID9940125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210923925..210924445hg38UCSC Ensembl
chr2:211788649..211789169hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6180312, essv6167620, essv6353740, essv5732126, essv6056131, essv5813354, essv5913541, essv5775419, essv6482913
SamplesNA19359, NA19393, NA19920, HG01488, NA19437, HG01095, NA19472, NA19102, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674020
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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