A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10587592



Internal ID1875786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95040588..95041684hg38UCSC Ensembl
Innerchr2:95040588..95041684hg38UCSC Ensembl
Outerchr2:95040442..95041801hg38UCSC Ensembl
chr2:95706333..95707429hg19UCSC Ensembl
Innerchr2:95706333..95707429hg19UCSC Ensembl
Outerchr2:95706187..95707546hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381097
hg191097
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591663
Supporting Variants
SamplesHG01770
Known GenesMAL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10587592
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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