A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715783



Internal ID9950070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27703359..27703563hg38UCSC Ensembl
Outerchr17:26030385..26030589hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913293, essv6976639, essv6710045, essv6843158, essv6816024, essv6879956, essv6835523, essv6960419, essv6877175, essv6803970, essv6895251, essv6941071, essv6852252, essv6780122
SamplesSSM073, SSM093, SSM041, SSM092, SSM084, SSM026, SSM067, SSM086, SSM082, SSM015, SSM077, SSM022, SSM004, SSM098
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)esv2715783
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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