A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715567



Internal ID10299203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5281794..5282430hg38UCSC Ensembl
Outerchr17:5185089..5185725hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696243, essv6960381, essv6776321, essv6831929
SamplesSSM026, SSM066, SSM081, SSM037
Known GenesRABEP1
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)esv2715567
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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