A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10412844



Internal ID3292715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13641435..13642789hg38UCSC Ensembl
Innerchr2:13641481..13642744hg38UCSC Ensembl
Outerchr2:13641390..13642835hg38UCSC Ensembl
chr2:13781560..13782914hg19UCSC Ensembl
Innerchr2:13781606..13782869hg19UCSC Ensembl
Outerchr2:13781515..13782960hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg381355
hg191355
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589850
Supporting Variants
SamplesHG02923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10412844
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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