A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590205



Internal ID6977534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30674873..30679101hg38UCSC Ensembl
Innerchr2:30674889..30679086hg38UCSC Ensembl
Outerchr2:30674858..30679117hg38UCSC Ensembl
chr2:30897739..30901967hg19UCSC Ensembl
Innerchr2:30897755..30901952hg19UCSC Ensembl
Outerchr2:30897724..30901983hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg384229
hg194229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10442260
SamplesHG02666
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590205
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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