A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749759



Internal ID10330729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:60816210..60816502hg38UCSC Ensembl
Outerchr15:61108409..61108701hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6879780, essv6815806, essv6909277, essv6862889, essv6966452
SamplesSSM027, SSM093, SSM088, SSM014, SSM077
Known GenesRORA
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)esv2749759
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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