A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715020



Internal ID9949305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88517655..88517770hg38UCSC Ensembl
Outerchr16:88584063..88584178hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709994
SamplesSSM041
Known GenesZFPM1
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)esv2715020
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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