A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673923



Internal ID9940028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:5208353..5209309hg38UCSC Ensembl
Outerchr10:5207982..5209679hg38UCSC Ensembl
Innerchr10:5250316..5251272hg19UCSC Ensembl
Outerchr10:5249945..5251642hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381698
hg191698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6575812, essv5690530, essv6493147, essv6467639, essv6315774, essv6529494, essv5999955, essv6429276, essv6129400, essv6361669, essv5750665, essv5494687, essv5630068, essv6494778, essv6588734, essv5998851
SamplesNA19204, NA18917, NA19190, NA19098, NA19119, NA19131, NA19130, NA18874, NA19137, NA19235, NA18908, NA19160, NA19147, NA19248, NA18873, NA18487
Known GenesAKR1C4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673923
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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