A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724806



Internal ID10308442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:231046788..231047782hg38UCSC Ensembl
Outerchr1:231182534..231183528hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38995
hg19995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695264, essv6689427, essv6797647, essv6955042, essv6807536, essv6961842, essv6917625, essv6898765, essv6786276, essv6813487, essv6886127, essv6750120, essv6847321, essv6883394, essv6733623, essv6972682, essv6864183, essv6816816
SamplesSSM100, SSM036, SSM008, SSM027, SSM075, SSM009, SSM002, SSM029, SSM096, SSM026, SSM089, SSM017, SSM001, SSM086, SSM072, SSM078, SSM095, SSM049
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)esv2724806
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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