A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2713967

Internal ID9948251
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10764199..10765162hg38UCSC Ensembl
Outerchr16:10858056..10859019hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812564, essv6945495, essv6953759, essv6949578, essv6706629, essv6691990, essv6685491, essv6732592, essv6796506, essv6838176, essv6857968, essv6877047, essv6709881, essv6966565, essv6741494, essv6741897, essv6744356, essv6940827, essv6755935, essv6713965, essv6824099, essv6862976, essv6867763, essv6752909, essv6702940, essv6828186, essv6871091, essv6735494, essv6820263, essv6800724, essv6688665, essv6960099, essv6882681, essv6936663, essv6784055, essv6928320, essv6724940, essv6747184, essv6772558, essv6900984, essv6766046, essv6776455, essv6665460, essv6846321, essv6728753, essv6971335
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM053, SSM006, SSM036, SSM055, SSM040, SSM078, SSM088, SSM089, SSM090, SSM035, SSM025, SSM072, SSM071, SSM057, SSM039, SSM024, SSM045, SSM094, SSM041, SSM100, SSM085, SSM028, SSM029, SSM047, SSM021, SSM034, SSM063, SSM087, SSM046, SSM019, SSM023, SSM079, SSM052, SSM068, SSM026, SSM049, SSM008, SSM076, SSM058, SSM080
Known GenesNUBP1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2713967
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0

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