A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674476



Internal ID9940581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98239796..98270062hg38UCSC Ensembl
Outerchr2:98239639..98270215hg38UCSC Ensembl
Innerchr2:98856259..98886525hg19UCSC Ensembl
Outerchr2:98856102..98886678hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3830577
hg1930577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6473638, essv5592506, essv5838128, essv6210323, essv6318187
SamplesNA19131, NA19236, NA18856, NA18523, NA19153
Known GenesVWA3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674476
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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