A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10540383



Internal ID5012968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73043198..73053336hg38UCSC Ensembl
Innerchr2:73043245..73053289hg38UCSC Ensembl
Outerchr2:73043151..73053383hg38UCSC Ensembl
chr2:73270327..73280465hg19UCSC Ensembl
Innerchr2:73270374..73280418hg19UCSC Ensembl
Outerchr2:73270280..73280512hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3810139
hg1910139
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591254
Supporting Variants
SamplesNA18508
Known GenesSFXN5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10540383
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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