A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715583



Internal ID10299219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6274118..6274645hg38UCSC Ensembl
Outerchr17:6177438..6177965hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38528
hg19528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920893, essv6710024, essv6932577, essv6668525, essv6960387, essv6772741, essv6953952, essv6696245, essv6913260, essv6905512, essv6966855, essv6665753, essv6945688, essv6901903
SamplesSSM027, SSM065, SSM013, SSM041, SSM023, SSM029, SSM026, SSM017, SSM020, SSM015, SSM037, SSM025, SSM030, SSM012
Known Genes
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)esv2715583
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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