A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10970258



Internal ID2402769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:31321452..31325891hg38UCSC Ensembl
Innerchr3:31321484..31325860hg38UCSC Ensembl
Outerchr3:31321421..31325923hg38UCSC Ensembl
chr3:31362944..31367383hg19UCSC Ensembl
Innerchr3:31362976..31367352hg19UCSC Ensembl
Outerchr3:31362913..31367415hg19UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg384440
hg194440
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595754
Supporting Variants
SamplesHG02131
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10970258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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