A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695989



Internal ID9761555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:52597030..52597377hg38UCSC Ensembl
Outerchr15:52889227..52889574hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749699
Supporting Variants
SamplesSSM037
Known GenesFAM214A
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)essv6695989
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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