A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716954



Internal ID10300590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:35081990..35082316hg38UCSC Ensembl
Outerchr18:32661954..32662280hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832073, essv6804070, essv6852441, essv6967086, essv6678614, essv6816130, essv6685716, essv6688907, essv6863305, essv6796868, essv6828482, essv6880058, essv6703290, essv6945865, essv6872609, essv6888619, essv6824416, essv6788591, essv6725284, essv6898213, essv6696414, essv6784409, essv6812783, essv6858401, essv6713713, essv6729085, essv6721470, essv6710148, essv6809972
SamplesSSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM039, SSM073, SSM093, SSM042, SSM088, SSM041, SSM023, SSM069, SSM096, SSM035, SSM032, SSM044, SSM086, SSM068, SSM081, SSM080, SSM037, SSM077, SSM076, SSM034, SSM099
Known GenesMAPRE2
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)esv2716954
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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