A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586317



Internal ID6973838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68095704..68098396hg38UCSC Ensembl
Innerchr1:68095742..68098358hg38UCSC Ensembl
Outerchr1:68095666..68098434hg38UCSC Ensembl
chr1:68561387..68564079hg19UCSC Ensembl
Innerchr1:68561425..68564041hg19UCSC Ensembl
Outerchr1:68561349..68564117hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382693
hg192693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9961180
SamplesNA20875
Known GenesGNG12-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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