A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10360095



Internal ID5693187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244731635..244736324hg38UCSC Ensembl
Innerchr1:244731652..244736307hg38UCSC Ensembl
Outerchr1:244731618..244736341hg38UCSC Ensembl
chr1:244894937..244899626hg19UCSC Ensembl
Innerchr1:244894954..244899609hg19UCSC Ensembl
Outerchr1:244894920..244899643hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384690
hg194690
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589415
Supporting Variants
SamplesNA19086
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10360095
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