A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv477e199



Internal ID20123779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:5057215..5061484hg38UCSC Ensembl
chr16:5107216..5111485hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384270
hg194270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663484, esv2667914
SamplesHG00536, HG00559, HG00449, HG00654, HG00589, HG00702, HG00689, HG00537, HG01455, HG00683, HG00705, HG00427, HG00629, HG00583, HG00500, HG00619, HG00651, NA19000, NA18626, HG00684, HG00463, NA18953, HG00476, HG00625, NA19072, HG00662, HG00614, HG00578, HG00478, NA18636, NA19726, NA19080, HG00628, NA18622, NA18562, HG00581
Known GenesC16orf89
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv477e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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