A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6817823



Internal ID10221324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1238447..1238558hg38UCSC Ensembl
Outerchr5:1238562..1238673hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729451, esv2729452
Supporting Variants
SamplesSSM078
Known GenesSLC6A18
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)essv6817823
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