A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3674494



Internal ID19392502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16373595..16373682hg38UCSC Ensembl
chr1:16700090..16700177hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16496249
Samples
Known GenesSZRD1
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)esv3674494
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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