A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857992



Internal ID9908991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:25054815..25126052hg38UCSC Ensembl
Outerchr16:25066136..25137373hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3871238
hg1971238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714121
Supporting Variants
SamplesSSM087
Known GenesLCMT1
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)essv6857992
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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