A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13866572



Internal ID3868388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:76983505..76985206hg38UCSC Ensembl
Innerchr10:76983505..76985206hg38UCSC Ensembl
Outerchr10:76983266..76985411hg38UCSC Ensembl
chr10:78743263..78744964hg19UCSC Ensembl
Innerchr10:78743263..78744964hg19UCSC Ensembl
Outerchr10:78743024..78745169hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623877
Supporting Variants
SamplesHG00879
Known GenesKCNMA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13866572
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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