A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934370



Internal ID4721650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75705462..75716226hg38UCSC Ensembl
Innerchr18:75705462..75716226hg38UCSC Ensembl
Outerchr18:75705202..75716484hg38UCSC Ensembl
chr18:73417417..73428181hg19UCSC Ensembl
Innerchr18:73417417..73428181hg19UCSC Ensembl
Outerchr18:73417157..73428439hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3810765
hg1910765
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643146
Supporting Variants
SamplesNA06984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934370
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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