A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750356



Internal ID10331326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1735445..1739791hg38UCSC Ensembl
Outerchr16:1785446..1789792hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384347
hg194347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916544, essv6673930, essv6839089, essv6916543, essv6953748, essv6857955, essv6839086, essv6842924, essv6835314, essv6792327, essv6839088, essv6803830, essv6717267, essv6763679, essv6960079, essv6851955, essv6960080, essv6953749, essv6696062, essv6792328, essv6839085, essv6763680
SamplesSSM083, SSM087, SSM073, SSM084, SSM062, SSM026, SSM031, SSM086, SSM082, SSM016, SSM037, SSM070, 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)esv2750356
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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