A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16496653



Internal ID19013527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37277102..37277103hg38UCSC Ensembl
chr4:37278724..37278725hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3674944
Supporting Variants
Samples
Known GenesKIAA1239
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)essv16496653
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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