A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9954597



Internal ID1081636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64550155..64626769hg38UCSC Ensembl
chr1:65015838..65092452hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3876615
hg1976615
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586268
Supporting Variants
SamplesHG00704
Known GenesCACHD1, MIR4794
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9954597
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