A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6715548



Internal ID9780788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52769150..52809613hg38UCSC Ensembl
Outerchr6:52633948..52674411hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3840464
hg1940464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732085, esv2732086
Supporting Variants
SamplesSSM043
Known GenesGSTA1
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)essv6715548
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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