A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10534676



Internal ID5447241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69891871..69895768hg38UCSC Ensembl
Innerchr2:69891900..69895739hg38UCSC Ensembl
Outerchr2:69891842..69895797hg38UCSC Ensembl
chr2:70119003..70122900hg19UCSC Ensembl
Innerchr2:70119032..70122871hg19UCSC Ensembl
Outerchr2:70118974..70122929hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383898
hg193898
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591193
Supporting Variants
SamplesNA18963
Known GenesSNRNP27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10534676
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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