A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16493396



Internal ID19010270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46951764..46951764hg38UCSC Ensembl
chr4:46953781..46953781hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3671325
Supporting Variants
Samples
Known GenesGABRA4
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)essv16493396
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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