A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6959958



Internal ID9715618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:52597143..52597285hg38UCSC Ensembl
Outerchr15:52889340..52889482hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749700, esv2749699
Supporting Variants
SamplesSSM026
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)essv6959958
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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