A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588948



Internal ID6629239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222719995..222720720hg38UCSC Ensembl
Innerchr1:222720011..222720705hg38UCSC Ensembl
Outerchr1:222719980..222720736hg38UCSC Ensembl
chr1:222893337..222894062hg19UCSC Ensembl
Innerchr1:222893353..222894047hg19UCSC Ensembl
Outerchr1:222893322..222894078hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10304216, essv10304215, essv10304218, essv10304219, essv10304217, essv10304214
SamplesHG02386, HG00403, NA18619, NA18976, HG00708, HG00698
Known GenesBROX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588948
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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