A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10434980



Internal ID436796
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590132
Supporting Variants
SamplesHG02666
Known GenesAGBL5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10434980
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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