A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749913



Internal ID10330883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:78632162..78632386hg38UCSC Ensembl
Outerchr15:78924504..78924728hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721103, essv6779882, essv6792286, essv6920657, essv6901722, essv6905314, essv6949536, essv6960001, essv6873994, essv6945443, essv6857893, essv6815824, essv6966490, essv6809520
SamplesSSM027, SSM024, SSM087, SSM013, SSM009, SSM023, SSM026, SSM017, SSM067, SSM044, SSM077, SSM091, SSM070, SSM012
Known GenesCHRNB4
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)esv2749913
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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