A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11457574



Internal ID1050875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:62799475..62832439hg38UCSC Ensembl
Innerchr4:62799537..62832378hg38UCSC Ensembl
Outerchr4:62799414..62832501hg38UCSC Ensembl
chr4:63665193..63698157hg19UCSC Ensembl
Innerchr4:63665255..63698096hg19UCSC Ensembl
Outerchr4:63665132..63698219hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3832965
hg1932965
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600714
Supporting Variants
SamplesHG00672
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11457574
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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