A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947816



Internal ID10056271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52833947..52850064hg38UCSC Ensembl
Outerchr6:52698745..52714862hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3816118
hg1916118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732088, esv2732089
Supporting Variants
SamplesSSM024
Known GenesGSTA5
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)essv6947816
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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