A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601146



Internal ID6641404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:81015023..81031200hg38UCSC Ensembl
chr4:81936177..81952354hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3816178
hg1916178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1010e214
Supporting Variantsessv11517471, essv11517472, essv11517469, essv11517470
SamplesHG04194, HG04162, HG01810, HG02116
Known GenesBMP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601146
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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