A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717424



Internal ID9951715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77018008..77019031hg38UCSC Ensembl
Outerchr18:74729964..74730987hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381024
hg191024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941254, essv6960700, essv6949976, essv6715998, essv6916912, essv6967167, essv6816160, essv6703350, essv6674505, essv6913470, essv6921107, essv6895398, essv6937089
SamplesSSM027, SSM024, SSM039, SSM021, SSM026, SSM017, SSM031, SSM006, SSM015, SSM016, SSM077, SSM022, SSM098
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)esv2717424
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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