A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11506802



Internal ID1508618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76010577..76013296hg38UCSC Ensembl
Innerchr4:76010577..76013296hg38UCSC Ensembl
Outerchr4:76010359..76013379hg38UCSC Ensembl
chr4:76931730..76934449hg19UCSC Ensembl
Innerchr4:76931730..76934449hg19UCSC Ensembl
Outerchr4:76931512..76934532hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg382720
hg192720
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601041
Supporting Variants
SamplesNA18982
Known GenesART3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11506802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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