A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589748



Internal ID6977077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8030761..8042636hg38UCSC Ensembl
Innerchr2:8030761..8042636hg38UCSC Ensembl
Outerchr2:8030261..8043136hg38UCSC Ensembl
chr2:8170891..8182766hg19UCSC Ensembl
Innerchr2:8170891..8182766hg19UCSC Ensembl
Outerchr2:8170391..8183266hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3811876
hg1911876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10404070, essv10404071, essv10404072
SamplesHG00185, HG00101, NA12829
Known GenesLINC00299
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589748
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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