A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13696225



Internal ID3698041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12076254..12079443hg38UCSC Ensembl
Innerchr10:12076305..12079392hg38UCSC Ensembl
Outerchr10:12076203..12079494hg38UCSC Ensembl
chr10:12118253..12121442hg19UCSC Ensembl
Innerchr10:12118304..12121391hg19UCSC Ensembl
Outerchr10:12118202..12121493hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg383190
hg193190
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622358
Supporting Variants
SamplesHG04075
Known GenesDHTKD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13696225
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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