A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641640



Internal ID7028414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4988204..5012813hg38UCSC Ensembl
Innerchr18:4988213..5012804hg38UCSC Ensembl
Outerchr18:4988195..5012822hg38UCSC Ensembl
chr18:4988203..5012812hg19UCSC Ensembl
Innerchr18:4988212..5012803hg19UCSC Ensembl
Outerchr18:4988194..5012821hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3824610
hg1924610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15783777
SamplesNA20582
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641640
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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