A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591317



Internal ID6978645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76258554..76261590hg38UCSC Ensembl
Innerchr2:76258554..76261590hg38UCSC Ensembl
Outerchr2:76258401..76261785hg38UCSC Ensembl
chr2:76485680..76488716hg19UCSC Ensembl
Innerchr2:76485680..76488716hg19UCSC Ensembl
Outerchr2:76485527..76488911hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg383037
hg193037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10545597
SamplesHG02768
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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