A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732088



Internal ID10315724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52815176..52869178hg38UCSC Ensembl
Outerchr6:52679974..52733976hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3854003
hg1954003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6786422, essv6818241, essv6751610, essv6833805, essv6760052, essv6855252, essv6939035, essv6903740, essv6947816
SamplesSSM024, SSM087, SSM013, SSM057, SSM069, SSM061, SSM082, SSM078, SSM022
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)esv2732088
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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