A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750364



Internal ID10331334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1737905..1738319hg38UCSC Ensembl
Outerchr16:1787906..1788320hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953748, essv6857955, essv6960080
SamplesSSM087, SSM026, SSM025
Known GenesMAPK8IP3
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)esv2750364
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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