A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641617



Internal ID6681702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4154498..4166139hg38UCSC Ensembl
Innerchr18:4154511..4166127hg38UCSC Ensembl
Outerchr18:4154486..4166152hg38UCSC Ensembl
chr18:4154498..4166139hg19UCSC Ensembl
Innerchr18:4154511..4166127hg19UCSC Ensembl
Outerchr18:4154486..4166152hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3811642
hg1911642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15780368, essv15780367, essv15780370, essv15780369, essv15780371
SamplesNA19923, HG03376, HG03565, HG02953, HG03258
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641617
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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