A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732876



Internal ID9967198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149983727..149983937hg38UCSC Ensembl
Outerchr6:150304863..150305073hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1024e201
Supporting Variantsessv6774680
SamplesSSM066
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)esv2732876
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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