A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716345



Internal ID10299981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79698938..79700021hg38UCSC Ensembl
Outerchr17:77672852..77673851hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381084
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971609, essv6784347, essv6895302, essv6820527, essv6750161, essv6880011, essv6905590, essv6706871, essv6717552, essv6692055, essv6699220, essv6725221, essv6747343, essv6954033, essv6665911, essv6916821, essv6778543, essv6729023
SamplesSSM008, SSM045, SSM046, SSM038, SSM013, SSM093, SSM028, SSM029, SSM068, SSM040, SSM078, SSM016, SSM005, SSM055, SSM025, SSM043, SSM098, SSM056
Known Genes
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)esv2716345
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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