A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590201



Internal ID6630488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30589923..30627405hg38UCSC Ensembl
Innerchr2:30589939..30627390hg38UCSC Ensembl
Outerchr2:30589908..30627421hg38UCSC Ensembl
chr2:30812789..30850271hg19UCSC Ensembl
Innerchr2:30812805..30850256hg19UCSC Ensembl
Outerchr2:30812774..30850287hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3837483
hg1937483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10442213, essv10442212
SamplesHG00133, HG02219
Known GenesLCLAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590201
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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