A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv75e199



Internal ID22757848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161561480..161661159hg38UCSC Ensembl
chr1:161531270..161630949hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3899680
hg1999680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2668992, esv2661911
SamplesHG01173, NA19684, HG00346, HG00258, NA19390, NA18941, NA19661
Known GenesFCGR2C, FCGR3B, HSPA7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv75e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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