A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11887036



Internal ID5856786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44344236..44344886hg38UCSC Ensembl
Innerchr5:44344317..44344827hg38UCSC Ensembl
Outerchr5:44344091..44345031hg38UCSC Ensembl
chr5:44344338..44344988hg19UCSC Ensembl
Innerchr5:44344419..44344929hg19UCSC Ensembl
Outerchr5:44344193..44345133hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604923
Supporting Variants
SamplesNA19235
Known GenesFGF10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11887036
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