A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15872961



Internal ID5823687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:52529561..52531099hg38UCSC Ensembl
Innerchr18:52529561..52531099hg38UCSC Ensembl
Outerchr18:52529518..52531279hg38UCSC Ensembl
chr18:50055931..50057469hg19UCSC Ensembl
Innerchr18:50055931..50057469hg19UCSC Ensembl
Outerchr18:50055888..50057649hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381539
hg191539
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642549
Supporting Variants
SamplesNA19201
Known GenesDCC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15872961
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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