A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748022



Internal ID10328992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110456711..110457046hg38UCSC Ensembl
Outerchr13:111109058..111109393hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772279, essv6949302, essv6823852, essv6800435, essv6842651, essv6717011, essv6735334, essv6712432, essv6783774, essv6796240, essv6928099, essv6815636, essv6966149, essv6940560, essv6720900
SamplesSSM071, SSM027, SSM024, SSM079, SSM065, SSM084, SSM019, SSM044, SSM006, SSM068, SSM072, SSM077, SSM022, SSM043, SSM049
Known GenesCOL4A2
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)esv2748022
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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