A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724817



Internal ID10308453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:231047249..231047720hg38UCSC Ensembl
Outerchr1:231182995..231183466hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689427, essv6797647, essv6955042, essv6807536, essv6961842, essv6917625, essv6898765, essv6786276, essv6813487, essv6886127, essv6847321, essv6883394, essv6972682, essv6864183, essv6816816
SamplesSSM100, SSM036, SSM027, SSM075, SSM009, SSM002, SSM029, SSM096, SSM026, SSM089, SSM017, SSM086, SSM072, SSM078, SSM095
Known Genes
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)esv2724817
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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