A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13964554



Internal ID6678837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126457291..126465921hg38UCSC Ensembl
Innerchr10:126457291..126465921hg38UCSC Ensembl
Outerchr10:126456791..126466421hg38UCSC Ensembl
chr10:128145860..128154490hg19UCSC Ensembl
Innerchr10:128145860..128154490hg19UCSC Ensembl
Outerchr10:128145360..128154990hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg388631
hg198631
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624860
Supporting Variants
SamplesNA20812
Known GenesC10orf90
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13964554
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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