A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750330



Internal ID9984614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1356840..1357024hg38UCSC Ensembl
Outerchr16:1406841..1407025hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975106, essv6916539
SamplesSSM016, SSM004
Known GenesGNPTG
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)esv2750330
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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