A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15779666



Internal ID5781482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3630099..3631707hg38UCSC Ensembl
Innerchr18:3630149..3631657hg38UCSC Ensembl
Outerchr18:3630049..3631757hg38UCSC Ensembl
chr18:3630098..3631706hg19UCSC Ensembl
Innerchr18:3630148..3631656hg19UCSC Ensembl
Outerchr18:3630048..3631756hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381609
hg191609
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641603
Supporting Variants
SamplesNA18972
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15779666
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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