A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737556



Internal ID9971895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:126179933..126182397hg38UCSC Ensembl
Outerchr8:127192177..127194641hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg382465
hg192465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912014, essv6904391, essv6760571, essv6766954, essv6740573, essv6935465, essv6705700, essv6734142, essv6931208, essv6915647, essv6778886, essv6934240, essv6667930, essv6850278, essv6801354, essv6763029, essv6976074, essv6958247, essv6923722, essv6791249, essv6701838, essv6737478, essv6893987, essv6919574, essv6681061
SamplesSSM008, SSM039, SSM013, SSM009, SSM050, SSM021, SSM018, SSM061, SSM029, SSM062, SSM026, SSM017, SSM003, SSM067, SSM086, SSM033, SSM040, SSM020, SSM007, SSM015, SSM016, SSM070, SSM052, SSM030, SSM012
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)esv2737556
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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