A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10404090



Internal ID1038099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8428172..8443733hg38UCSC Ensembl
Innerchr2:8428672..8443233hg38UCSC Ensembl
Outerchr2:8427172..8444733hg38UCSC Ensembl
chr2:8568302..8583863hg19UCSC Ensembl
Innerchr2:8568802..8583363hg19UCSC Ensembl
Outerchr2:8567302..8584863hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3815562
hg1915562
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589756
Supporting Variants
SamplesHG00656
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10404090
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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