A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749791



Internal ID3297743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:66414024..66414497hg38UCSC Ensembl
Outerchr15:66706362..66706835hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6809442, essv6966459, essv6673840, essv6857863, essv6867686
SamplesSSM027, SSM089, SSM031, SSM009, SSM087
Known GenesMAP2K1
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)esv2749791
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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