A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597265



Internal ID2763313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100656944..100661828hg38UCSC Ensembl
Innerchr2:100657000..100661772hg38UCSC Ensembl
Outerchr2:100656888..100661884hg38UCSC Ensembl
chr2:101273406..101278290hg19UCSC Ensembl
Innerchr2:101273462..101278234hg19UCSC Ensembl
Outerchr2:101273350..101278346hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg384885
hg194885
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591759
Supporting Variants
SamplesHG02429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597265
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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