A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3664187



Internal ID19035509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74176157..74176281hg38UCSC Ensembl
chr2:74403284..74403408hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16486972
Samples
Known GenesMOB1A
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)esv3664187
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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