A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714038



Internal ID9948322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17381866..17385922hg38UCSC Ensembl
Outerchr16:17475723..17479779hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg384057
hg194057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913072, essv6691997, essv6942951, essv6763687, essv6975284, essv6895079, essv6796516, essv6690443, essv6877059, essv6949583, essv6936669, essv6839105, essv6867771, essv6732602, essv6888366, essv6761330, essv6920726, essv6874031, essv6741502, essv6953768, essv6806745, essv6744359
SamplesSSM036, SSM083, SSM071, SSM024, SSM074, SSM092, SSM021, SSM047, SSM061, SSM096, SSM062, SSM089, SSM017, SSM003, SSM015, SSM053, SSM005, SSM091, SSM025, SSM004, SSM052, SSM098
Known GenesXYLT1
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)esv2714038
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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