A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11370078



Internal ID6573156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22449194..22453058hg38UCSC Ensembl
Innerchr4:22449694..22452558hg38UCSC Ensembl
Outerchr4:22448194..22454058hg38UCSC Ensembl
chr4:22450817..22454681hg19UCSC Ensembl
Innerchr4:22451317..22454181hg19UCSC Ensembl
Outerchr4:22449817..22455681hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg383865
hg193865
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599902
Supporting Variants
SamplesNA20761
Known GenesGPR125
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11370078
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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