A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841996



Internal ID981403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3781658..3794952hg38UCSC Ensembl
chr1:3698222..3711516hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3813295
hg1913295
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585049
Supporting Variants
SamplesHG00610
Known GenesLRRC47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841996
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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