A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10298214



Internal ID5890942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220311616..220330158hg38UCSC Ensembl
Innerchr1:220312116..220329658hg38UCSC Ensembl
Outerchr1:220310616..220331158hg38UCSC Ensembl
chr1:220484958..220503500hg19UCSC Ensembl
Innerchr1:220485458..220503000hg19UCSC Ensembl
Outerchr1:220483958..220504500hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3818543
hg1918543
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588899
Supporting Variants
SamplesNA19314
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10298214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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