A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586682



Internal ID6974200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85445274..85449726hg38UCSC Ensembl
Innerchr1:85445274..85449726hg38UCSC Ensembl
Outerchr1:85445024..85449963hg38UCSC Ensembl
chr1:85910957..85915409hg19UCSC Ensembl
Innerchr1:85910957..85915409hg19UCSC Ensembl
Outerchr1:85910707..85915646hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg384453
hg194453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv31e214
Supporting Variantsessv10004519, essv10004517, essv10004516, essv10004518, essv10004515
SamplesNA19058, NA18959, NA19054, HG02184, NA18620
Known GenesDDAH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586682
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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