A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16486557



Internal ID19350117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21323819..21323819hg38UCSC Ensembl
chr1:21650312..21650312hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3663726
Supporting Variants
Samples
Known GenesECE1
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)essv16486557
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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