A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665352



Internal ID9584771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:152603509..152604672hg38UCSC Ensembl
Outerchr2:152603472..152604722hg38UCSC Ensembl
Innerchr2:153460023..153461186hg19UCSC Ensembl
Outerchr2:153459986..153461236hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6065247, essv5817600, essv6171664, essv6070893, essv5760118, essv5657970, essv6590109
SamplesHG00556, NA18534, HG00619, HG00140, NA18536, HG00418, NA19078
Known GenesFMNL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665352
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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