A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667914



Internal ID9934019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:5057215..5061264hg38UCSC Ensembl
chr16:5107216..5111265hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384050
hg194050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv477e199
Supporting Variantsessv6535208, essv5874060, essv5890860, essv6456965, essv6357400, essv5877285, essv6256576, essv6008010, essv6046442, essv5832287, essv5915557, essv5497409, essv5939736, essv5727365, essv6588991, essv5859395, essv5998493, essv6584272, essv5900213, essv5882791, essv6420899, essv5713470, essv5819608, essv5779692, essv6169881, essv5507977, essv6099961, essv6115223, essv6443782, essv6072318
SamplesHG00536, HG00559, HG00449, HG00654, HG00589, HG00702, HG00689, HG00537, HG00683, HG00705, HG00427, HG00629, HG00583, HG00500, HG00619, HG00651, HG00684, HG00463, NA18953, HG00476, HG00625, HG00662, HG00614, HG00578, HG00478, NA18636, NA19726, HG00628, NA18622, HG00581
Known GenesC16orf89
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667914
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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