A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589115



Internal ID6629406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231556848..231559447hg38UCSC Ensembl
Innerchr1:231556866..231559430hg38UCSC Ensembl
Outerchr1:231556831..231559465hg38UCSC Ensembl
chr1:231692594..231695193hg19UCSC Ensembl
Innerchr1:231692612..231695176hg19UCSC Ensembl
Outerchr1:231692577..231695211hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10319029, essv10319031, essv10319028, essv10319030, essv10319032
SamplesHG02317, HG03419, NA18912, HG02502, NA18910
Known GenesTSNAX, TSNAX-DISC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589115
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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