A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589423



Internal ID6976751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245001202..245002355hg38UCSC Ensembl
Innerchr1:245001224..245002334hg38UCSC Ensembl
Outerchr1:245001181..245002377hg38UCSC Ensembl
chr1:245164504..245165657hg19UCSC Ensembl
Innerchr1:245164526..245165636hg19UCSC Ensembl
Outerchr1:245164483..245165679hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10360161, essv10360162, essv10360160, essv10360159
SamplesNA21127, NA21135, NA21129, NA20851
Known GenesEFCAB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589423
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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