A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12081760



Internal ID6061263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142636512..142641826hg38UCSC Ensembl
Innerchr5:142636552..142641787hg38UCSC Ensembl
Outerchr5:142636473..142641866hg38UCSC Ensembl
chr5:142016077..142021391hg19UCSC Ensembl
Innerchr5:142016117..142021352hg19UCSC Ensembl
Outerchr5:142016038..142021431hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385315
hg195315
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607008
Supporting Variants
SamplesNA19454
Known GenesFGF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12081760
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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