A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725164



Internal ID9959468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38561519..38562144hg38UCSC Ensembl
Outerchr3:38603010..38603635hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6833080, essv6693381, essv6766937, essv6718659, essv6820575, essv6892799, essv6704311, essv6926145, essv6947051, essv6753586, essv6793857, essv6722519, essv6951123, essv6707735, essv6878048, essv6847893, essv6929660, essv6881542, essv6921418, essv6777467, essv6844338, essv6875118, essv6872130, essv6917987, essv6711120, essv6781448, essv6785590, essv6807806, essv6686589, essv6933881, essv6899045, essv6854068, essv6714777, essv6700208
SamplesSSM100, SSM008, SSM071, SSM024, SSM075, SSM045, SSM064, SSM087, SSM039, SSM093, SSM042, SSM041, SSM092, SSM021, SSM069, SSM017, SSM019, SSM035, SSM003, SSM067, SSM044, SSM086, SSM085, SSM068, SSM040, SSM082, SSM020, SSM037, SSM010, SSM091, SSM025, SSM043, SSM098, SSM012
Known GenesSCN5A
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)esv2725164
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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