A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13707123



Internal ID5149409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:17638251..17642955hg38UCSC Ensembl
Innerchr10:17638251..17642955hg38UCSC Ensembl
Outerchr10:17638061..17643156hg38UCSC Ensembl
chr10:17680250..17684954hg19UCSC Ensembl
Innerchr10:17680250..17684954hg19UCSC Ensembl
Outerchr10:17680060..17685155hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg384705
hg194705
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622495
Supporting Variants
SamplesNA18577
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13707123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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