A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11020024



Internal ID506192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56760556..56766818hg38UCSC Ensembl
Innerchr3:56760556..56766818hg38UCSC Ensembl
Outerchr3:56760334..56767049hg38UCSC Ensembl
chr3:56794584..56800846hg19UCSC Ensembl
Innerchr3:56794584..56800846hg19UCSC Ensembl
Outerchr3:56794362..56801077hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg386263
hg196263
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596218
Supporting Variants
SamplesHG00180
Known GenesARHGEF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11020024
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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