A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15780297



Internal ID5782113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3718858..3724707hg38UCSC Ensembl
Innerchr18:3718858..3724707hg38UCSC Ensembl
Outerchr18:3718747..3724786hg38UCSC Ensembl
chr18:3718858..3724707hg19UCSC Ensembl
Innerchr18:3718858..3724707hg19UCSC Ensembl
Outerchr18:3718747..3724786hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg385850
hg195850
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641608
Supporting Variants
SamplesHG01771
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15780297
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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