A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750388



Internal ID10331358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3011393..3012012hg38UCSC Ensembl
Outerchr16:3061394..3062013hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6846313, essv6842925, essv6665443, essv6975139, essv6779923, essv6776139, essv6891668, essv6738226, essv6877034, essv6895068, essv6857957, essv6897983, essv6688659
SamplesSSM087, SSM097, SSM050, SSM092, SSM084, SSM029, SSM035, SSM067, SSM066, SSM085, SSM004, SSM099, SSM098
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)esv2750388
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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