A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11284047



Internal ID4175860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194634615..194635873hg38UCSC Ensembl
Innerchr3:194634630..194635858hg38UCSC Ensembl
Outerchr3:194634600..194635888hg38UCSC Ensembl
chr3:194355344..194356602hg19UCSC Ensembl
Innerchr3:194355359..194356587hg19UCSC Ensembl
Outerchr3:194355329..194356617hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599210
Supporting Variants
SamplesHG03773
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11284047
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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