A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568999



Internal ID1973231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86585567..86587822hg38UCSC Ensembl
Innerchr2:86585591..86587799hg38UCSC Ensembl
Outerchr2:86585544..86587846hg38UCSC Ensembl
chr2:86812690..86814945hg19UCSC Ensembl
Innerchr2:86812714..86814922hg19UCSC Ensembl
Outerchr2:86812667..86814969hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg382256
hg192256
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591551
Supporting Variants
SamplesHG01840
Known GenesRNF103-CHMP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568999
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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