A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16472914



Internal ID18989788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128678015..128678015hg38UCSC Ensembl
chr7:128318069..128318069hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3688708
Supporting Variants
Samples
Known GenesFAM71F2
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)essv16472914
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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