A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667588



Internal ID9587007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29735106..29740486hg38UCSC Ensembl
chr2:29957972..29963352hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg385381
hg195381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6143002, essv5537743, essv5698190, essv5401625, essv6545806, essv5684984, essv6057799, essv5438554, essv6314461
SamplesNA19703, NA19359, NA19236, NA20282, NA18858, HG01107, NA19401, NA19428, NA19430
Known GenesALK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667588
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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