A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588899



Internal ID6976315
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10298214, essv10298215
SamplesNA19703, NA19314
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588899
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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