A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10400372



Internal ID3901943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4904798..4909122hg38UCSC Ensembl
Innerchr2:4904819..4909102hg38UCSC Ensembl
Outerchr2:4904778..4909143hg38UCSC Ensembl
chr2:4952388..4956712hg19UCSC Ensembl
Innerchr2:4952409..4956692hg19UCSC Ensembl
Outerchr2:4952368..4956733hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg384325
hg194325
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589691
Supporting Variants
SamplesHG03558
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10400372
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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