A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668992



Internal ID9935097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161579327..161661159hg38UCSC Ensembl
chr1:161549117..161630949hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3881833
hg1981833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv75e199
Supporting Variantsessv6148989, essv6164409, essv5726016, essv6416963, essv6570343, essv5492263
SamplesHG01173, NA19684, HG00346, HG00258, NA19390, NA19661
Known GenesFCGR2C, FCGR3B, HSPA7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668992
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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