A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725363



Internal ID10308999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236038499..236039022hg38UCSC Ensembl
Outerchr1:236201799..236202322hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6729807, essv6847328, essv6804567, essv6679363, essv6692984, essv6889183, essv6714427, essv6845610, essv6832758, essv6670765, essv6868871, essv6972693, essv6801775, essv6821371, essv6781073, essv6906301
SamplesSSM011, SSM079, SSM097, SSM073, SSM074, SSM090, SSM047, SSM029, SSM014, SSM086, SSM033, SSM068, SSM082, SSM005, SSM037, SSM043
Known GenesNID1
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)esv2725363
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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