A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433158



Internal ID434974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25784283..25796841hg38UCSC Ensembl
Innerchr2:25784283..25796841hg38UCSC Ensembl
Outerchr2:25783783..25797341hg38UCSC Ensembl
chr2:26007152..26019710hg19UCSC Ensembl
Innerchr2:26007152..26019710hg19UCSC Ensembl
Outerchr2:26006652..26020210hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3812559
hg1912559
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590099
Supporting Variants
SamplesNA18567
Known GenesASXL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433158
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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