A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663484



Internal ID9929589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:5057249..5061484hg38UCSC Ensembl
chr16:5107250..5111485hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384236
hg194236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv477e199
Supporting Variantsessv6300975, essv6400623, essv6160802, essv6491516, essv6339912, essv6309708, essv5773301, essv5628406, essv6280299, essv5882636, essv5718538, essv6546389, essv5724680, essv5716391, essv5635352, essv5466594, essv5750908, essv6428902
SamplesHG00559, HG00449, HG00654, HG01455, HG00500, HG00651, NA19000, NA18626, HG00463, NA18953, HG00625, NA19072, HG00662, NA18636, NA19726, NA19080, NA18622, NA18562
Known GenesC16orf89
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663484
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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