A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11527208



Internal ID1529024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87261881..87310568hg38UCSC Ensembl
chr4:88183033..88231720hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3848688
hg1948688
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601268
Supporting Variants
SamplesNA19324
Known GenesHSD17B13, MIR5705
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11527208
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