A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750359



Internal ID10331329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1737109..1738467hg38UCSC Ensembl
Outerchr16:1787110..1788468hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381359
hg191359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953748, essv6857955, essv6842924, essv6803830, essv6717267, essv6763679, essv6960080
SamplesSSM087, SSM073, SSM084, SSM062, SSM026, SSM025, SSM043
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)esv2750359
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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