A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731327



Internal ID10314963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180311748..180312756hg38UCSC Ensembl
Outerchr5:179738748..179739756hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759934, essv6759498, essv6860680, essv6922943, essv6748653, essv6911203, essv6770680, essv6690315, essv6844801, essv6855067
SamplesSSM036, SSM008, SSM065, SSM087, SSM088, SSM018, SSM061, SSM085, SSM015, SSM056
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)esv2731327
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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