A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661222



Internal ID9580641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72049451..72076250hg38UCSC Ensembl
chr16:72083350..72110149hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3826800
hg1926800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv504e199
Supporting Variantsessv5624093, essv6445400, essv6509114, essv6378942, essv6141313, essv5978903, essv6077676, essv5811043, essv5647058, essv5547292, essv5430426
SamplesHG00592, HG00536, HG00654, HG00663, NA18560, HG00635, NA18632, NA18543, HG00607, HG00578, HG00656
Known GenesHP, HPR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661222
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer