A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15756251



Internal ID1014603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80181760..80195698hg38UCSC Ensembl
chr17:78155559..78169497hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3813939
hg1913939
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641366
Supporting Variants
SamplesHG00634
Known GenesCARD14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15756251
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