A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13948958



Internal ID3950774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120467179..120469345hg38UCSC Ensembl
Innerchr10:120467229..120469244hg38UCSC Ensembl
Outerchr10:120466848..120469676hg38UCSC Ensembl
chr10:122226691..122228857hg19UCSC Ensembl
Innerchr10:122226741..122228756hg19UCSC Ensembl
Outerchr10:122226360..122229188hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg382167
hg192167
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624729
Supporting Variants
SamplesHG01354
Known GenesPPAPDC1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13948958
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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