A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715782



Internal ID9950069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27703183..27703689hg38UCSC Ensembl
Outerchr17:26030209..26030715hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38507
hg19507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913293, essv6976639, essv6761432, essv6710045, essv6843158, essv6816024, essv6879956, essv6835523, essv6756050, essv6960419, essv6877175, essv6803970, essv6895251, essv6725162, essv6941071, essv6852252, essv6780122
SamplesSSM045, SSM073, SSM093, SSM041, SSM058, SSM092, SSM084, SSM061, 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)esv2715782
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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