A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593977



Internal ID6981299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201332776..201341859hg38UCSC Ensembl
Innerchr2:201332780..201341856hg38UCSC Ensembl
Outerchr2:201332773..201341863hg38UCSC Ensembl
chr2:202197499..202206582hg19UCSC Ensembl
Innerchr2:202197503..202206579hg19UCSC Ensembl
Outerchr2:202197496..202206586hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg389084
hg199084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10823040
SamplesNA20911
Known GenesALS2CR12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593977
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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