A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715238



Internal ID10298874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:296144..296398hg38UCSC Ensembl
Outerchr17:145935..146189hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784231, essv6796682, essv6815988, essv6843096, essv6772705, essv6717419, essv6895205, essv6888503, essv6971492, essv6928463, essv6824250
SamplesSSM071, SSM079, SSM065, SSM028, SSM084, SSM096, SSM019, SSM068, SSM077, SSM043, SSM098
Known GenesRPH3AL
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)esv2715238
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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