A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7760092



Internal ID13438239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72049728..72049729hg38UCSC Ensembl
Innerchr4:72049680..72049777hg38UCSC Ensembl
Outerchr4:72049679..72049778hg38UCSC Ensembl
chr4:72915445..72915446hg19UCSC Ensembl
Innerchr4:72915397..72915494hg19UCSC Ensembl
Outerchr4:72915396..72915495hg19UCSC Ensembl
chr4:73134309..73134310hg18UCSC Ensembl
Innerchr4:73134358..73134261hg18UCSC Ensembl
Outerchr4:73134260..73134359hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382093
hg192093
hg182093
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305821
Supporting Variants
SamplesNA18501
Known GenesNPFFR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7760092
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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