A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11509742



Internal ID6814562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:77638662..77654629hg38UCSC Ensembl
Innerchr4:77638691..77654600hg38UCSC Ensembl
Outerchr4:77638633..77654658hg38UCSC Ensembl
chr4:78559816..78575783hg19UCSC Ensembl
Innerchr4:78559845..78575754hg19UCSC Ensembl
Outerchr4:78559787..78575812hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3815968
hg1915968
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601080
Supporting Variants
SamplesNA20896
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11509742
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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