A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601268



Internal ID6988306
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1012e214
Supporting Variantsessv11527210, essv11527208, essv11527207, essv11527205, essv11527209, essv11527203, essv11527204, essv11527206, essv11527211
SamplesNA19028, NA19314, NA19315, NA19385, HG01989, NA20296, HG03240, NA19324, NA19351
Known GenesHSD17B13, MIR5705
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601268
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer