A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3659226



Internal ID19377234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77063971..77063971hg38UCSC Ensembl
chr18:74775927..74775927hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16482507
Samples
Known GenesMBP
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)esv3659226
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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