A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310335



Internal ID15157286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39072185..39072186hg38UCSC Ensembl
Innerchr4:39072167..39072204hg38UCSC Ensembl
Outerchr4:39072166..39072205hg38UCSC Ensembl
chr4:39073805..39073806hg19UCSC Ensembl
Innerchr4:39073787..39073824hg19UCSC Ensembl
Outerchr4:39073786..39073825hg19UCSC Ensembl
chr4:38750200..38750201hg18UCSC Ensembl
Innerchr4:38750219..38750182hg18UCSC Ensembl
Outerchr4:38750181..38750220hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842674, essv7841735
SamplesNA19238, NA19240
Known GenesKLHL5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310335
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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