A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15812832



Internal ID2110313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14062429..14100393hg38UCSC Ensembl
Innerchr18:14062439..14100384hg38UCSC Ensembl
Outerchr18:14062420..14100403hg38UCSC Ensembl
chr18:14062428..14100392hg19UCSC Ensembl
Innerchr18:14062438..14100383hg19UCSC Ensembl
Outerchr18:14062419..14100402hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3837965
hg1937965
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641870
Supporting Variants
SamplesHG01920
Known GenesZNF519
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15812832
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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