A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714873



Internal ID9949158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92943581..92954268hg38UCSC Ensembl
Outerchr1:93409138..93419825hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3810688
hg1910688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829074, essv6864044, essv6853345
SamplesSSM087, SSM089, SSM081
Known GenesFAM69A
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)esv2714873
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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