A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3682808



Internal ID19400816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237516877..237516943hg38UCSC Ensembl
chr2:238425520..238425586hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16467603
Samples
Known GenesMLPH
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)esv3682808
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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