A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6767332



Internal ID9828551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42628296..42631041hg38UCSC Ensembl
Outerchr5:42628398..42631143hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382746
hg192746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730136
Supporting Variants
SamplesSSM064
Known GenesGHR
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)essv6767332
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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