A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3669270



Internal ID19040592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:91410407..91410407hg38UCSC Ensembl
chr13:92062661..92062661hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16491547
Samples
Known GenesGPC5
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)esv3669270
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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