A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13912978



Internal ID3914794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:100528312..100531647hg38UCSC Ensembl
Innerchr10:100528354..100531605hg38UCSC Ensembl
Outerchr10:100528270..100531689hg38UCSC Ensembl
chr10:102288069..102291404hg19UCSC Ensembl
Innerchr10:102288111..102291362hg19UCSC Ensembl
Outerchr10:102288027..102291446hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg383336
hg193336
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624363
Supporting Variants
SamplesHG02702
Known GenesNDUFB8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13912978
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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