A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6949520



Internal ID10054739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:64340984..64341349hg38UCSC Ensembl
Outerchr15:64633183..64633548hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749781
Supporting Variants
SamplesSSM024
Known GenesCSNK1G1
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)essv6949520
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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