A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16497243



Internal ID19360803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94564384..94564465hg38UCSC Ensembl
chr5:93900089..93900170hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3675599
Supporting Variants
Samples
Known GenesKIAA0825
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)essv16497243
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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