A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593950



Internal ID6981272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199897083..199903392hg38UCSC Ensembl
Innerchr2:199897106..199903369hg38UCSC Ensembl
Outerchr2:199897060..199903415hg38UCSC Ensembl
chr2:200761806..200768115hg19UCSC Ensembl
Innerchr2:200761829..200768092hg19UCSC Ensembl
Outerchr2:200761783..200768138hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386310
hg196310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10819914
SamplesHG03603
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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