A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590132



Internal ID6630419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27065976..27066662hg38UCSC Ensembl
Innerchr2:27065989..27066650hg38UCSC Ensembl
Outerchr2:27065964..27066675hg38UCSC Ensembl
chr2:27288844..27289530hg19UCSC Ensembl
Innerchr2:27288857..27289518hg19UCSC Ensembl
Outerchr2:27288832..27289543hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10434981, essv10434979, essv10434980
SamplesHG02666, HG02621, HG02807
Known GenesAGBL5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590132
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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