A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750432



Internal ID9984716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4973314..4973510hg38UCSC Ensembl
Outerchr16:5023315..5023511hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779925, essv6796501
SamplesSSM071, SSM067
Known GenesSEC14L5
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)esv2750432
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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