A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11443233



Internal ID3973105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56894981..56895944hg38UCSC Ensembl
Innerchr4:56895000..56895925hg38UCSC Ensembl
Outerchr4:56894962..56895963hg38UCSC Ensembl
chr4:57761147..57762110hg19UCSC Ensembl
Innerchr4:57761166..57762091hg19UCSC Ensembl
Outerchr4:57761128..57762129hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38964
hg19964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600594
Supporting Variants
SamplesHG03629
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11443233
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