A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16496389



Internal ID19359949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232664624..232664625hg38UCSC Ensembl
chr2:233529334..233529335hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3674650
Supporting Variants
Samples
Known GenesEFHD1
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)essv16496389
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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