A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589083



Internal ID6629374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229939508..230186230hg38UCSC Ensembl
Innerchr1:229939658..230186080hg38UCSC Ensembl
Outerchr1:229939358..230186380hg38UCSC Ensembl
chr1:230075255..230321976hg19UCSC Ensembl
Innerchr1:230075405..230321826hg19UCSC Ensembl
Outerchr1:230075105..230322126hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38246723
hg19246722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10316552
SamplesHG02020
Known GenesGALNT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589083
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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