A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16464594



Internal ID19328154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136352225..136352317hg38UCSC Ensembl
chr9:139246677..139246769hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3652252
Supporting Variants
Samples
Known GenesGPSM1
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)essv16464594
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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