A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743719



Internal ID10324689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10744461..10744610hg38UCSC Ensembl
Outerchr1:10804518..10804667hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863949, essv6859180, essv6847004, essv6707259, essv6906092, essv6807366
SamplesSSM075, SSM088, SSM041, SSM089, SSM014, SSM086
Known GenesCASZ1
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)esv2743719
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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