A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732039



Internal ID10315675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47382625..47382711hg38UCSC Ensembl
Outerchr6:47350361..47350447hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855245, essv6865605, essv6957027, essv6849150
SamplesSSM087, SSM026, SSM089, SSM086
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)esv2732039
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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