A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717425



Internal ID9951716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77018148..77018525hg38UCSC Ensembl
Outerchr18:74730104..74730481hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941254, essv6960700, essv6949976, essv6967167, essv6816160, essv6674505, essv6895398
SamplesSSM027, SSM024, SSM026, SSM031, 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)esv2717425
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer