A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9963913



Internal ID6589206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69909712..69924943hg38UCSC Ensembl
chr1:70375395..70390626hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3815232
hg1915232
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586345
Supporting Variants
SamplesHG00690
Known GenesLRRC7, PIN1P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9963913
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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