A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13867090



Internal ID1774206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79414365..79518758hg38UCSC Ensembl
Innerchr10:79414515..79518608hg38UCSC Ensembl
Outerchr10:79414215..79518908hg38UCSC Ensembl
chr10:81174121..81278514hg19UCSC Ensembl
Innerchr10:81174271..81278364hg19UCSC Ensembl
Outerchr10:81173971..81278664hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38104394
hg19104394
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623911
Supporting Variants
SamplesHG01630
Known GenesEIF5AL1, ZCCHC24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13867090
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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