A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590210



Internal ID6977539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30901874..30909589hg38UCSC Ensembl
Innerchr2:30901911..30909552hg38UCSC Ensembl
Outerchr2:30901837..30909626hg38UCSC Ensembl
chr2:31124740..31132455hg19UCSC Ensembl
Innerchr2:31124777..31132418hg19UCSC Ensembl
Outerchr2:31124703..31132492hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg387716
hg197716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10442362, essv10442361, essv10442365, essv10442364, essv10442360, essv10442363
SamplesNA18567, HG00632, HG02025, HG00556, HG02088, HG01794
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590210
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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