A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6670852



Internal ID10086731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:112888533..112891227hg38UCSC Ensembl
Outerchr5:112224230..112226924hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg382695
hg192695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730601
Supporting Variants
SamplesSSM031
Known GenesREEP5, SRP19
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)essv6670852
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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