A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16477643



Internal ID19341203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48759706..48759706hg38UCSC Ensembl
chr12:49153489..49153489hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3653822
Supporting Variants
Samples
Known GenesLINC00935
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)essv16477643
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer