A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731103



Internal ID10314739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:172570540..172571332hg38UCSC Ensembl
Outerchr5:171997543..171998335hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6942150, essv6727003, essv6751483, essv6802468, essv6759253, essv6956780, essv6963501, essv6841113, essv6914967, essv6926996, essv6690301, essv6974549, essv6872622, essv6677365, essv6770660, essv6886910, essv6723102, essv6918614, essv6896667, essv6754412, essv6881308, essv6930323, essv6922923, essv6848912, essv6730754, essv6786251, essv6934560, essv6759913, essv6764902, essv6745844, essv6790370
SamplesSSM036, SSM008, SSM027, SSM045, SSM046, SSM065, SSM073, SSM057, SSM058, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM017, SSM094, SSM003, SSM001, SSM086, SSM020, SSM016, SSM005, SSM091, SSM055, SSM070, SSM099, 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)esv2731103
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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