A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13796116



Internal ID3797932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49113706..49131289hg38UCSC Ensembl
Innerchr10:49113706..49131289hg38UCSC Ensembl
Outerchr10:49113206..49131789hg38UCSC Ensembl
chr10:50321751..50339334hg19UCSC Ensembl
Innerchr10:50321751..50339334hg19UCSC Ensembl
Outerchr10:50321251..50339834hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3817584
hg1917584
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623164
Supporting Variants
SamplesNA19318
Known GenesFAM170B, FAM170B-AS1, VSTM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13796116
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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