A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732594



Internal ID10316230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:113906153..113906364hg38UCSC Ensembl
Outerchr6:114227317..114227528hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6826483, essv6957139, essv6690548, essv6939102, essv6778276, essv6701165, essv6770897
SamplesSSM036, SSM065, SSM039, SSM026, SSM067, SSM080, SSM022
Known GenesFLJ34503
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)esv2732594
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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