A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716094



Internal ID10299730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63501004..63501884hg38UCSC Ensembl
Outerchr17:61578365..61579245hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852308, essv6966947, essv6868022, essv6820483, essv6901957, essv6909527, essv6858283, essv6674300, essv6877203, essv6960465, essv6756077, essv6863210, essv6665865
SamplesSSM027, SSM087, SSM088, SSM058, SSM092, SSM029, SSM026, SSM089, SSM031, SSM014, SSM086, SSM078, 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)esv2716094
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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