A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10076902



Internal ID78718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113087524..113209293hg38UCSC Ensembl
chr1:113630146..113751915hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38121770
hg19121770
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587231
Supporting Variants
SamplesNA18523
Known GenesLOC643441, LRIG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10076902
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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