A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717430



Internal ID9951721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77057794..77058105hg38UCSC Ensembl
Outerchr18:74769750..74770061hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666119, essv6820650, essv6858489, essv6674506, essv6967168, essv6891957, essv6960701, essv6885630, essv6873065, essv6863373, essv6852527, essv6901242, essv6888660, essv6685761, essv6868169, essv6710189
SamplesSSM100, SSM027, SSM011, SSM087, SSM097, SSM088, SSM041, SSM029, SSM096, SSM026, SSM089, SSM031, SSM086, SSM078, SSM095, SSM034
Known GenesMBP
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)esv2717430
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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