A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15931332



Internal ID4721634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70504637..70657450hg38UCSC Ensembl
chr18:68171873..68324686hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38152814
hg19152814
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642988
Supporting Variants
SamplesNA06984
Known GenesGTSCR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15931332
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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