A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6764375



Internal ID9983352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78115419..78116193hg38UCSC Ensembl
Outerchr17:76111500..76112274hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716301
Supporting Variants
SamplesSSM001
Known GenesTMC6
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)essv6764375
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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