A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641622



Internal ID6681707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4306254..4314511hg38UCSC Ensembl
Innerchr18:4306254..4314511hg38UCSC Ensembl
Outerchr18:4306196..4314624hg38UCSC Ensembl
chr18:4306254..4314511hg19UCSC Ensembl
Innerchr18:4306254..4314511hg19UCSC Ensembl
Outerchr18:4306196..4314624hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg388258
hg198258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15780453, essv15780452
SamplesHG00737, NA20511
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641622
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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