A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719518



Internal ID10303154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:171487958..171488156hg38UCSC Ensembl
Outerchr1:171457097..171457295hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972582, essv6773563, essv6829126, essv6669152
SamplesSSM029, SSM031, SSM066, SSM081
Known GenesPRRC2C
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)esv2719518
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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