A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449791



Internal ID15296739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75987499..75987511hg38UCSC Ensembl
Innerchr4:75987501..75987509hg38UCSC Ensembl
Outerchr4:75987497..75987513hg38UCSC Ensembl
chr4:76908652..76908664hg19UCSC Ensembl
Innerchr4:76908654..76908662hg19UCSC Ensembl
Outerchr4:76908650..76908666hg19UCSC Ensembl
chr4:77127676..77127688hg18UCSC Ensembl
Innerchr4:77127678..77127686hg18UCSC Ensembl
Outerchr4:77127674..77127690hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864343
SamplesNA12005
Known GenesSDAD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449791
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer