A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10442260



Internal ID3029556
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590205
Supporting Variants
SamplesHG02666
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10442260
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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