A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912052



Internal ID9638367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:75395967..75396618hg38UCSC Ensembl
Outerchr16:75429865..75430516hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38652
hg19652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714708
Supporting Variants
SamplesSSM002
Known GenesCFDP1
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)essv6912052
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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