A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747983



Internal ID10328953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:109383118..109383426hg38UCSC Ensembl
Outerchr13:110035465..110035773hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959623, essv6819967, essv6688455, essv6891459, essv6836331, essv6940555, essv6928095, essv6706400, essv6787974, essv6920420, essv6905092, essv6924550, essv6873834, essv6749836, essv6728525, essv6831522, essv6796238, essv6740009, essv6815633, essv6882484, essv6916311, essv6806544, essv6783770, essv6812373, essv6936379, essv6691783, essv6717005, essv6867698, essv6838818, essv6779650, essv6879635, essv6774209
SamplesSSM036, SSM008, SSM083, SSM071, SSM046, SSM011, SSM097, SSM013, SSM093, SSM074, SSM021, SSM018, SSM069, SSM026, SSM017, SSM019, SSM035, SSM094, SSM067, SSM068, SSM081, SSM040, SSM007, SSM078, SSM016, SSM077, SSM076, SSM022, SSM010, SSM091, SSM043, SSM056
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)esv2747983
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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