A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733235



Internal ID9967558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167388014..167388166hg38UCSC Ensembl
Outerchr6:167801502..167801654hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782352, essv6723371, essv6826552, essv6708563
SamplesSSM045, SSM041, SSM068, SSM080
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)esv2733235
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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