A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658650



Internal ID9578069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63861180..63862856hg38UCSC Ensembl
chr2:64088314..64089990hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381677
hg191677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6155603, essv5868182, essv6372725, essv5596967, essv6165981
SamplesHG01107, NA19914, NA19238, NA19240, NA18853
Known GenesUGP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658650
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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