A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13858633



Internal ID3860449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70688979..70691587hg38UCSC Ensembl
Innerchr10:70688979..70691587hg38UCSC Ensembl
Outerchr10:70688762..70691805hg38UCSC Ensembl
chr10:72448735..72451343hg19UCSC Ensembl
Innerchr10:72448735..72451343hg19UCSC Ensembl
Outerchr10:72448518..72451561hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg382609
hg192609
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623768
Supporting Variants
SamplesHG00133
Known GenesADAMTS14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13858633
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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