A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675378



Internal ID9941483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226650565..226651098hg38UCSC Ensembl
chr2:227515281..227515814hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38534
hg19534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6155720, essv6052980, essv5856152, essv5820902, essv6598442, essv6442778, essv6196128, essv6058523, essv5737306, essv5637722, essv5985411, essv5524359, essv6537249, essv5408117, essv6303178, essv5554394, essv6365079
SamplesNA11829, NA18603, NA18960, NA19681, NA19209, NA12828, NA18638, NA18871, NA20344, NA18573, NA19225, NA18909, NA19256, NA19240, NA19818, NA19093, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675378
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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