A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11054448



Internal ID3623511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81959105..81975261hg38UCSC Ensembl
Innerchr3:81959605..81974761hg38UCSC Ensembl
Outerchr3:81958105..81976261hg38UCSC Ensembl
chr3:82008256..82024412hg19UCSC Ensembl
Innerchr3:82008756..82023912hg19UCSC Ensembl
Outerchr3:82007256..82025412hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3816157
hg1916157
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596756
Supporting Variants
SamplesHG03224
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11054448
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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