A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11253167



Internal ID1254983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184099458..184101465hg38UCSC Ensembl
Innerchr3:184099458..184101465hg38UCSC Ensembl
Outerchr3:184099096..184101798hg38UCSC Ensembl
chr3:183817246..183819253hg19UCSC Ensembl
Innerchr3:183817246..183819253hg19UCSC Ensembl
Outerchr3:183816884..183819586hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg382008
hg192008
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598937
Supporting Variants
SamplesNA18639
Known GenesHTR3E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11253167
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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