A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6896582



Internal ID10290406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:28640481..28728386hg38UCSC Ensembl
Outerchr5:28640588..28728493hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3887906
hg1987906
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729992
Supporting Variants
SamplesSSM099
Known Genes
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)essv6896582
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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