A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717361



Internal ID10300997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:75104504..75105526hg38UCSC Ensembl
Outerchr18:72816460..72817482hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv463e201
Supporting Variantsessv6810007, essv6806993, essv6843320, essv6801125, essv6846571, essv6901237, essv6703346, essv6780297, essv6729119, essv6888656, essv6713749, essv6824455, essv6766233, essv6674495, essv6772920, essv6871330, essv6932771, essv6891950, essv6871329, essv6685758, essv6761549, essv6816156, essv6877297, essv6784446, essv6744721, essv6898237, essv6909646, essv6725323, essv6891949, essv6941249, essv6960688, essv6725322, essv6949968, essv6721505, essv6835672, essv6945915, essv6696453, essv6932770, essv6678665, essv6949967, essv6967157, essv6873008, essv6788632, essv6839445, essv6796907, essv6678664, essv6666107, essv6750249
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM097, SSM039, SSM074, SSM042, SSM023, SSM092, SSM084, SSM090, SSM069, SSM061, SSM029, SSM096, SSM026, SSM032, SSM031, SSM067, SSM044, SSM014, SSM085, SSM068, SSM072, SSM082, SSM020, SSM007, SSM037, SSM077, SSM022, SSM034, SSM099, SSM056, SSM063
Known Genes
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)esv2717361
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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