A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731330



Internal ID10314966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180312037..180312184hg38UCSC Ensembl
Outerchr5:179739037..179739184hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv973e201
Supporting Variantsessv6860680, essv6690315
SamplesSSM036, SSM088
Known GenesGFPT2
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)esv2731330
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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