A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568998



Internal ID5514585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86548800..86549933hg38UCSC Ensembl
Innerchr2:86548819..86549915hg38UCSC Ensembl
Outerchr2:86548782..86549952hg38UCSC Ensembl
chr2:86775923..86777056hg19UCSC Ensembl
Innerchr2:86775942..86777038hg19UCSC Ensembl
Outerchr2:86775905..86777075hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381134
hg191134
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591550
Supporting Variants
SamplesNA18990
Known GenesCHMP3, RNF103-CHMP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568998
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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