A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744440



Internal ID10325410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47618935..47625628hg38UCSC Ensembl
Outerchr11:47640487..47647180hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg386694
hg196694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672928
SamplesSSM031
Known GenesMTCH2
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)esv2744440
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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