A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10788770



Internal ID6879687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:183117048..183122200hg38UCSC Ensembl
Innerchr2:183117088..183122161hg38UCSC Ensembl
Outerchr2:183117009..183122240hg38UCSC Ensembl
chr2:183981776..183986928hg19UCSC Ensembl
Innerchr2:183981816..183986889hg19UCSC Ensembl
Outerchr2:183981737..183986968hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg385153
hg195153
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593582
Supporting Variants
SamplesNA21101
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10788770
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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