A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717718



Internal ID10301354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150065323..150066235hg38UCSC Ensembl
Outerchr1:150037323..150038291hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38913
hg19969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853405, essv6749520, essv6807463, essv6961722, essv6769627, essv6954911, essv6972543, essv6917573, essv6910157, essv6697059, essv6968042, essv6738907, essv6714346, essv6682921, essv6937779, essv6718252
SamplesSSM008, SSM027, SSM075, SSM065, SSM087, SSM038, SSM028, SSM029, SSM026, SSM003, SSM044, SSM015, SSM022, SSM034, SSM043, SSM052
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)esv2717718
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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