A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13796087



Internal ID1894644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48251756..48258526hg38UCSC Ensembl
Innerchr10:48251756..48258526hg38UCSC Ensembl
Outerchr10:48251256..48259026hg38UCSC Ensembl
chr10:49459799..49466569hg19UCSC Ensembl
Innerchr10:49459799..49466569hg19UCSC Ensembl
Outerchr10:49459299..49467069hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg386771
hg196771
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623151
Supporting Variants
SamplesHG01781
Known GenesFRMPD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13796087
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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