A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3687823



Internal ID19059145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27549150..27549150hg38UCSC Ensembl
chr7:27588769..27588769hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16472118
Samples
Known GenesHIBADH
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)esv3687823
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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