A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11058816



Internal ID2298554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:83631093..83637800hg38UCSC Ensembl
Innerchr3:83631094..83637799hg38UCSC Ensembl
Outerchr3:83631092..83637801hg38UCSC Ensembl
chr3:83680244..83686951hg19UCSC Ensembl
Innerchr3:83680245..83686950hg19UCSC Ensembl
Outerchr3:83680243..83686952hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg386708
hg196708
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596797
Supporting Variants
SamplesHG02052
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11058816
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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