A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643339



Internal ID6683419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80225373..80241363hg38UCSC Ensembl
Innerchr18:80225375..80241361hg38UCSC Ensembl
Outerchr18:80225371..80241365hg38UCSC Ensembl
chr18:77983256..77999246hg19UCSC Ensembl
Innerchr18:77983258..77999244hg19UCSC Ensembl
Outerchr18:77983254..77999248hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3815991
hg1915991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv649e214
Supporting Variantsessv15961911, essv15961906, essv15961908, essv15961910, essv15961909, essv15961907, essv15961905
SamplesHG01052, NA06984, HG01308, HG01048, HG03061, HG01047, HG01396
Known GenesPARD6G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643339
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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