A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10401883



Internal ID6457801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6185885..6187224hg38UCSC Ensembl
Innerchr2:6185892..6187218hg38UCSC Ensembl
Outerchr2:6185879..6187231hg38UCSC Ensembl
chr2:6326017..6327356hg19UCSC Ensembl
Innerchr2:6326024..6327350hg19UCSC Ensembl
Outerchr2:6326011..6327363hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg381340
hg191340
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589718
Supporting Variants
SamplesNA20515
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10401883
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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