A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13796120



Internal ID2915388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49157644..49171500hg38UCSC Ensembl
Innerchr10:49157794..49171350hg38UCSC Ensembl
Outerchr10:49157494..49171650hg38UCSC Ensembl
chr10:50365689..50379545hg19UCSC Ensembl
Innerchr10:50365839..50379395hg19UCSC Ensembl
Outerchr10:50365539..50379695hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3813857
hg1913857
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623167
Supporting Variants
SamplesHG02582
Known GenesC10orf128
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13796120
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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