A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15820599



Internal ID1648222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25084148..25084649hg38UCSC Ensembl
Innerchr18:25084148..25084649hg38UCSC Ensembl
Outerchr18:25083770..25084976hg38UCSC Ensembl
chr18:22664112..22664613hg19UCSC Ensembl
Innerchr18:22664112..22664613hg19UCSC Ensembl
Outerchr18:22663734..22664940hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641996
Supporting Variants
SamplesHG01516
Known GenesZNF521
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15820599
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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