A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966054



Internal ID9723679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:50495210..50500900hg38UCSC Ensembl
Outerchr13:51069346..51075036hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg385691
hg195691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747407
Supporting Variants
SamplesSSM027
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)essv6966054
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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