A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912214



Internal ID9675470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137719886..137720101hg38UCSC Ensembl
Outerchr9:140614338..140614553hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739464, esv2739465
Supporting Variants
SamplesSSM015
Known GenesEHMT1
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)essv6912214
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