A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713967



Internal ID9948251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10764199..10765162hg38UCSC Ensembl
Outerchr16:10858056..10859019hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38964
hg19964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953759, essv6728753, essv6741897, essv6936663, essv6702940, essv6741494, essv6784055, essv6713965, essv6871091, essv6960099, essv6747184, essv6724940, essv6949578, essv6857968, essv6824099, essv6838176, essv6828186, essv6862976, essv6796506, essv6685491, essv6966565, essv6940827, essv6971335, essv6709881, essv6900984, essv6755935, essv6752909, essv6772558, essv6800724, essv6706629, essv6688665, essv6867763, essv6665460, essv6928320, essv6820263, essv6735494, essv6877047, essv6744356, essv6732592, essv6812564, essv6846321, essv6882681, essv6945495, essv6776455, essv6766046, essv6691990
SamplesSSM100, SSM036, SSM008, SSM071, SSM027, SSM024, SSM045, SSM046, SSM079, SSM065, SSM087, SSM039, SSM088, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM047, SSM029, SSM026, SSM089, SSM019, SSM035, SSM094, SSM006, SSM085, SSM068, SSM040, SSM072, SSM007, SSM078, SSM053, SSM080, SSM076, SSM022, SSM010, SSM055, SSM025, SSM034, SSM052, SSM049, SSM063
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)esv2713967
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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