A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748874



Internal ID9983158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:59296403..59296956hg38UCSC Ensembl
Outerchr1:59762075..59762628hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773476, essv6725883, essv6699634
SamplesSSM039, SSM066, SSM046
Known GenesFGGY
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)esv2748874
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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