A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723817



Internal ID10307453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:224945870..225060997hg38UCSC Ensembl
Outerchr1:225133572..225248699hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38115128
hg19115128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722169, essv6804556, essv6718322, essv6726021, essv6871860, essv6859404, essv6789337, essv6720176, essv6845443, essv6880562, essv6789336, essv6847302, essv6813315, essv6829168, essv6797631, essv6707414, essv6785170, essv6810468, essv6807528, essv6836350, essv6886118
SamplesSSM083, SSM075, SSM045, SSM046, SSM011, SSM074, SSM088, SSM041, SSM069, SSM096, SSM094, SSM044, SSM086, SSM081, SSM072, SSM007, SSM077, SSM076, SSM091, SSM070
Known GenesDNAH14
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)esv2723817
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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