A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13943548



Internal ID3012560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:115625295..115630990hg38UCSC Ensembl
Innerchr10:115625332..115630954hg38UCSC Ensembl
Outerchr10:115625259..115631027hg38UCSC Ensembl
chr10:117384805..117390500hg19UCSC Ensembl
Innerchr10:117384842..117390464hg19UCSC Ensembl
Outerchr10:117384769..117390537hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg385696
hg195696
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624639
Supporting Variants
SamplesHG02654
Known GenesATRNL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13943548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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