A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13861674



Internal ID3176005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73081011..73082918hg38UCSC Ensembl
Innerchr10:73081057..73082872hg38UCSC Ensembl
Outerchr10:73080965..73082964hg38UCSC Ensembl
chr10:74840769..74842676hg19UCSC Ensembl
Innerchr10:74840815..74842630hg19UCSC Ensembl
Outerchr10:74840723..74842722hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381908
hg191908
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623809
Supporting Variants
SamplesHG02792
Known GenesP4HA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13861674
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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