A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15772426



Internal ID6330105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:619847..623221hg38UCSC Ensembl
Innerchr18:619869..623199hg38UCSC Ensembl
Outerchr18:619825..623243hg38UCSC Ensembl
chr18:619847..623221hg19UCSC Ensembl
Innerchr18:619869..623199hg19UCSC Ensembl
Outerchr18:619825..623243hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg383375
hg193375
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641499
Supporting Variants
SamplesNA19923
Known GenesCLUL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15772426
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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