A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714064



Internal ID10297700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20767203..20767537hg38UCSC Ensembl
Outerchr16:20778525..20778859hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885392, essv6870076, essv6828194, essv6800734, essv6732605, essv6862989, essv6857982, essv6796518, essv6888370, essv6678305, essv6792345, essv6949587, essv6692001, essv6820274, essv6895082, essv6685496, essv6891680, essv6673959, essv6975306, essv6960115, essv6815861, essv6966577, essv6867777, essv6851994
SamplesSSM036, SSM071, SSM027, SSM024, SSM011, SSM087, SSM097, SSM088, SSM047, SSM096, SSM026, SSM089, SSM032, SSM031, SSM086, SSM072, SSM078, SSM080, SSM077, SSM070, SSM095, SSM034, SSM004, SSM098
Known GenesACSM3
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)esv2714064
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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