A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714467



Internal ID10298103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:51013901..51014524hg38UCSC Ensembl
Outerchr16:51047812..51048435hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv368e201
Supporting Variantsessv6721248, essv6665563, essv6792430, essv6779997, essv6920785, essv6674075, essv6788341, essv6706699, essv6932467, essv6966695
SamplesSSM027, SSM069, SSM029, SSM017, SSM031, SSM067, SSM044, SSM040, SSM020, SSM070
Known Genes
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)esv2714467
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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