A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713954



Internal ID9948238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:9773696..9774489hg38UCSC Ensembl
Outerchr16:9867553..9868346hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784052, essv6885384, essv6842933, essv6945494, essv6709879, essv6750708, essv6806741, essv6724939, essv6940825, essv6824097, essv6949577, essv6792336, essv6682003, essv6803836, essv6728752, essv6690377, essv6732590, essv6702938, essv6772557, essv6901764, essv6877045
SamplesSSM065, SSM022, SSM092, SSM033, SSM084, SSM001, SSM039, SSM024, SSM045, SSM041, SSM005, SSM012, SSM095, SSM047, SSM073, SSM046, SSM023, SSM079, SSM068, SSM074, SSM070
Known GenesGRIN2A
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2713954
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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