A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3671597



Internal ID19389605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61353480..61353565hg38UCSC Ensembl
chr2:61580615..61580700hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16466335
Samples
Known GenesUSP34
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)esv3671597
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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