A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638934



Internal ID7025719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69816425..69824178hg38UCSC Ensembl
chr16:69850328..69858081hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg387754
hg197754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15503790, essv15503779, essv15503801, essv15503799, essv15503786, essv15503785, essv15503781, essv15503784, essv15503796, essv15503803, essv15503798, essv15503804, essv15503802, essv15503794, essv15503780, essv15503793, essv15503792, essv15503791, essv15503783, essv15503778, essv15503800, essv15503787, essv15503797, essv15503782, essv15503795, essv15503789, essv15503788
SamplesNA20529, HG01773, NA20512, HG03926, NA12340, NA12400, NA20890, HG03604, NA12283, HG03911, NA12275, HG01069, NA21105, NA21122, HG03902, HG03685, HG02728, HG02221, NA19654, HG03006, NA20821, NA20522, HG03729, HG02079, NA20852, HG01583, NA21120
Known GenesWWP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638934
Frequency
Sample Size2504
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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