A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585915



Internal ID6626229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45720361..46036324hg38UCSC Ensembl
Innerchr1:45720511..46036174hg38UCSC Ensembl
Outerchr1:45720211..46036474hg38UCSC Ensembl
chr1:46186033..46501996hg19UCSC Ensembl
Innerchr1:46186183..46501846hg19UCSC Ensembl
Outerchr1:46185883..46502146hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38315964
hg19315964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9925788
SamplesHG02675
Known GenesIPP, MAST2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585915
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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