A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11041781



Internal ID4866045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75137647..75140595hg38UCSC Ensembl
Innerchr3:75137692..75140550hg38UCSC Ensembl
Outerchr3:75137602..75140640hg38UCSC Ensembl
chr3:75186798..75189746hg19UCSC Ensembl
Innerchr3:75186843..75189701hg19UCSC Ensembl
Outerchr3:75186753..75189791hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg382949
hg192949
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596594
Supporting Variants
SamplesNA12287
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11041781
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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