A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749912



Internal ID10330882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:78631978..78632659hg38UCSC Ensembl
Outerchr15:78924320..78925001hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940777, essv6721103, essv6779882, essv6792286, essv6741451, essv6920657, essv6901722, essv6905314, essv6949536, essv6960001, essv6873994, essv6945443, essv6857893, essv6924775, essv6815824, essv6966490, essv6809520
SamplesSSM027, SSM024, SSM087, SSM013, SSM009, SSM023, SSM018, SSM026, SSM017, SSM067, SSM044, SSM077, SSM022, SSM091, SSM070, SSM052, 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)esv2749912
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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