A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6813957



Internal ID10216043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:119543737..119545123hg38UCSC Ensembl
Outerchr4:120464892..120466278hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg381387
hg191387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728237
Supporting Variants
SamplesSSM077
Known GenesPDE5A
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)essv6813957
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