A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592989



Internal ID6980316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154401178..154433462hg38UCSC Ensembl
Innerchr2:154401678..154432962hg38UCSC Ensembl
Outerchr2:154400178..154434462hg38UCSC Ensembl
chr2:155257690..155289974hg19UCSC Ensembl
Innerchr2:155258190..155289474hg19UCSC Ensembl
Outerchr2:155256690..155290974hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3832285
hg1932285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv746e214
Supporting Variantsessv10719661
SamplesNA19379
Known GenesGALNT13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592989
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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