A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673876



Internal ID9939981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8204994..8230200hg38UCSC Ensembl
Outerchr8:8204623..8230570hg38UCSC Ensembl
Innerchr8:8062516..8087722hg19UCSC Ensembl
Outerchr8:8062145..8088092hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3825948
hg1925948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1266e199
Supporting Variantsessv6556324, essv6019063, essv6491499, essv6373044, essv6567619, essv5890029, essv5955794, essv5440079, essv6573325, essv6506695, essv5918993, essv5722959, essv5743157, essv6188215, essv5516042, essv5621377, essv5730222, essv5899370, essv6187728, essv5502924, essv6584741, essv6206979, essv6452586, essv5604214, essv6374854, essv5472527, essv5408151, essv6261489, essv5897811, essv5873580
SamplesHG01441, HG01356, HG01462, HG01359, HG01389, HG01374, HG01465, HG01461, HG01140, HG01250, HG01350, HG01366, HG01354, HG01365, HG01134, HG01455, HG01440, HG01124, HG01136, HG01360, HG01498, HG01149, HG01497, HG01253, HG01357, HG01113, HG01254, HG01377, HG01378, HG01125
Known GenesFAM86B3P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673876
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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