A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750003



Internal ID9984287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:89474622..89475224hg38UCSC Ensembl
Outerchr15:90017853..90018455hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38603
hg19603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882659, essv6920669, essv6831743, essv6776064
SamplesSSM094, SSM017, SSM008, SSM081
Known GenesRHCG
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)esv2750003
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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