A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590203



Internal ID6977532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30641801..30653026hg38UCSC Ensembl
Innerchr2:30641807..30653021hg38UCSC Ensembl
Outerchr2:30641796..30653032hg38UCSC Ensembl
chr2:30864667..30875892hg19UCSC Ensembl
Innerchr2:30864673..30875887hg19UCSC Ensembl
Outerchr2:30864662..30875898hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3811226
hg1911226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10442257, essv10442256
SamplesHG00133, HG02219
Known GenesLCLAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590203
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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