A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10397043



Internal ID1453713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3380121..3383297hg38UCSC Ensembl
Innerchr2:3380121..3383297hg38UCSC Ensembl
Outerchr2:3379927..3383483hg38UCSC Ensembl
chr2:3383892..3387068hg19UCSC Ensembl
Innerchr2:3383892..3387068hg19UCSC Ensembl
Outerchr2:3383698..3387254hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383177
hg193177
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589656
Supporting Variants
SamplesHG01345
Known GenesTRAPPC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10397043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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