A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661315



Internal ID9927420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161514314..161595972hg38UCSC Ensembl
chr1:161484104..161565762hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3881659
hg1981659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv74e199
Supporting Variantsessv6100401, essv6040904, essv6537689, essv6551251, essv6208734, essv6409332, essv5829101
SamplesHG00121, HG00351, HG00109, HG01351, HG01259, NA19753, HG00381
Known GenesFCGR2A, FCGR2C, FCGR3A, HSPA6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661315
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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