A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716769



Internal ID10300405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9385277..9385701hg38UCSC Ensembl
Outerchr18:9385275..9385699hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6725262, essv6747367, essv6960586, essv6809954, essv6925092, essv6863279, essv6843259, essv6871283, essv6932709, essv6796841, essv6909574, essv6832048, essv6717604, essv6696390, essv6877247, essv6916854, essv6868090, essv6812166, essv6682307, essv6788566, essv6874234, essv6665990, essv6699247, essv6703258, essv6806942, essv6945274, essv6839998, essv6721446, essv6895333, essv6784385, essv6678590, essv6713684, essv6744131, essv6812763, essv6828452, essv6816110, essv6913388, essv6685691, essv6891888, essv6835614, essv6753101, essv6852404, essv6804047, essv6949903, essv6898188, essv6945833
SamplesSSM071, SSM024, SSM075, SSM045, SSM038, SSM097, SSM039, SSM009, SSM073, SSM074, SSM042, SSM088, SSM057, SSM023, SSM092, SSM084, SSM090, SSM018, SSM069, SSM029, SSM026, SSM089, SSM032, SSM003, SSM044, SSM014, SSM086, SSM033, SSM068, SSM081, SSM082, SSM020, SSM007, SSM015, SSM016, SSM080, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM034, SSM099, SSM043, SSM098
Known GenesTWSG1
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)esv2716769
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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