A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13889923



Internal ID1749265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:88340402..88343373hg38UCSC Ensembl
Innerchr10:88340404..88343371hg38UCSC Ensembl
Outerchr10:88340400..88343375hg38UCSC Ensembl
chr10:90100159..90103130hg19UCSC Ensembl
Innerchr10:90100161..90103128hg19UCSC Ensembl
Outerchr10:90100157..90103132hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg382972
hg192972
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624124
Supporting Variants
SamplesHG01615
Known GenesRNLS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13889923
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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