A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719951



Internal ID9954246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:181022867..181023277hg38UCSC Ensembl
Outerchr1:180992003..180992413hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6902661, essv6950687, essv6793435
SamplesSSM071, SSM013, SSM025
Known GenesSTX6
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)esv2719951
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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