A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714530



Internal ID9948814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57628762..57629230hg38UCSC Ensembl
Outerchr16:57662674..57663142hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732701, essv6949685, essv6815938, essv6960225
SamplesSSM024, SSM047, SSM026, SSM077
Known GenesGPR56
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)esv2714530
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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