A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716642



Internal ID10300278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83205584..83205865hg38UCSC Ensembl
Outerchr17:81153353..81153634hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6729059, essv6796827, essv6732912, essv6832041
SamplesSSM071, SSM046, SSM047, SSM081
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)esv2716642
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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