A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588841



Internal ID6976257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217362480..217386923hg38UCSC Ensembl
Innerchr1:217362505..217386898hg38UCSC Ensembl
Outerchr1:217362455..217386948hg38UCSC Ensembl
chr1:217535822..217560265hg19UCSC Ensembl
Innerchr1:217535847..217560240hg19UCSC Ensembl
Outerchr1:217535797..217560290hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3824444
hg1924444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10294936
SamplesHG03963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588841
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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