A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10968960



Internal ID1141325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30226089..30304939hg38UCSC Ensembl
Innerchr3:30226092..30304937hg38UCSC Ensembl
Outerchr3:30226087..30304942hg38UCSC Ensembl
chr3:30267580..30346430hg19UCSC Ensembl
Innerchr3:30267583..30346428hg19UCSC Ensembl
Outerchr3:30267578..30346433hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3878851
hg1978851
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595733
Supporting Variants
SamplesHG00956
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10968960
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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