A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713972



Internal ID9948256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10764776..10765031hg38UCSC Ensembl
Outerchr16:10858633..10858888hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv330e201
Supporting Variantsessv6953759, essv6702940, essv6741494, essv6960099, essv6724940, essv6949578, essv6824099, essv6828186, essv6862976, essv6796506, essv6685491, essv6940827, essv6971335, essv6709881, essv6772558, essv6800724, essv6706629, essv6688665, essv6867763, essv6928320, essv6820263, essv6732592, essv6945495, essv6691990
SamplesSSM036, SSM071, SSM024, SSM045, SSM079, SSM065, SSM039, SSM088, SSM041, SSM023, SSM028, SSM047, SSM026, SSM089, SSM019, SSM035, SSM040, SSM072, SSM078, SSM080, SSM022, SSM025, SSM034, SSM052
Known GenesNUBP1
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)esv2713972
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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