A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749700



Internal ID9983984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:52597143..52597326hg38UCSC Ensembl
Outerchr15:52889340..52889523hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959958, essv6940759
SamplesSSM026, SSM022
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)esv2749700
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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