A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745697



Internal ID10326667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:26344669..26345313hg38UCSC Ensembl
Outerchr1:26671160..26671804hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714259, essv6868724, essv6836201, essv6729638, essv6759060, essv6780887, essv6937694, essv6898619
SamplesSSM100, SSM083, SSM090, SSM047, SSM061, SSM068, SSM022, SSM043
Known GenesAIM1L
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)esv2745697
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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