A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913253



Internal ID10021221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1550820..1551233hg38UCSC Ensembl
Outerchr17:1454114..1454527hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715469
Supporting Variants
SamplesSSM015
Known GenesPITPNA
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)essv6913253
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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