A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16481804



Internal ID19345364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50699939..50700041hg38UCSC Ensembl
chr19:51203196..51203298hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3658445
Supporting Variants
Samples
Known GenesSHANK1
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)essv16481804
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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