A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842601



Internal ID9895136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:50495223..50500943hg38UCSC Ensembl
Outerchr13:51069359..51075079hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg385721
hg195721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747407
Supporting Variants
SamplesSSM084
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)essv6842601
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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