A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730907



Internal ID10314543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149327061..149327345hg38UCSC Ensembl
Outerchr5:148706624..148706908hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974511, essv6837286, essv6822312, essv6798687, essv6893363
SamplesSSM083, SSM079, SSM029, SSM072, SSM098
Known GenesAFAP1L1
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)esv2730907
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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