A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3674142



Internal ID19392150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29572215..29572303hg38UCSC Ensembl
chr22:29968204..29968292hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16495931
Samples
Known GenesNIPSNAP1
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)esv3674142
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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