A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10404375



Internal ID406191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9660410..9670694hg38UCSC Ensembl
Innerchr2:9660428..9670677hg38UCSC Ensembl
Outerchr2:9660393..9670712hg38UCSC Ensembl
chr2:9800539..9810823hg19UCSC Ensembl
Innerchr2:9800557..9810806hg19UCSC Ensembl
Outerchr2:9800522..9810841hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3810285
hg1910285
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589779
Supporting Variants
SamplesHG03872
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10404375
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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