A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970296



Internal ID9644993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64855724..64856167hg38UCSC Ensembl
Outerchr11:64623196..64623639hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744628
Supporting Variants
SamplesSSM004
Known GenesEHD1
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)essv6970296
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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