A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11868475



Internal ID1147639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35221416..35303290hg38UCSC Ensembl
Innerchr5:35221916..35302790hg38UCSC Ensembl
Outerchr5:35220416..35304290hg38UCSC Ensembl
chr5:35221518..35303392hg19UCSC Ensembl
Innerchr5:35222018..35302892hg19UCSC Ensembl
Outerchr5:35220518..35304392hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3881875
hg1981875
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604696
Supporting Variants
SamplesHG00982
Known GenesPRLR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11868475
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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