A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15783777



Internal ID6532258
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641640
Supporting Variants
SamplesNA20582
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15783777
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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