A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10417851



Internal ID1500542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15582284..15582891hg38UCSC Ensembl
Innerchr2:15582334..15582841hg38UCSC Ensembl
Outerchr2:15582231..15582944hg38UCSC Ensembl
chr2:15722408..15723015hg19UCSC Ensembl
Innerchr2:15722458..15722965hg19UCSC Ensembl
Outerchr2:15722355..15723068hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589915
Supporting Variants
SamplesHG01377
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10417851
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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