A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676673



Internal ID9942778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8208894..8230200hg38UCSC Ensembl
Outerchr8:8208523..8230570hg38UCSC Ensembl
Innerchr8:8066416..8087722hg19UCSC Ensembl
Outerchr8:8066045..8088092hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3822048
hg1922048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1266e199
Supporting Variantsessv5699259, essv5767507, essv5862593, essv5460502, essv6359686, essv6052920, essv5984676, essv5515341, essv6126975, essv5748320, essv6189969, essv5685154, essv5453593, essv6219011, essv6417238, essv5740384, essv6533482, essv6515415, essv6175728, essv5668432, essv5874439, essv6159075, essv6281599, essv5554989, essv6498282, essv6102342, essv5902578, essv5853465, essv5711769, essv5902527, essv6355909, essv5560008, essv6447512, essv6503186, essv6155703, essv6520537, essv5805115, essv6195218, essv6339552, essv6043022, essv6596005, essv5749908, essv6142357, essv5655689, essv5447343, essv5482228, essv6050910, essv5594098, essv6509460, essv6180519, essv6162637, essv5583780, essv5518561, essv6230683, essv5589918, essv5589067, essv5793070, essv6328244, essv6255326, essv6553448
SamplesNA18621, NA18592, NA18561, NA18599, NA18545, NA18526, NA18633, NA18602, NA18627, NA18563, NA18550, NA18595, NA18567, NA18558, NA18618, NA18574, NA18571, NA18611, NA18617, NA18557, NA18539, NA18614, NA18544, NA18613, NA18538, NA18637, NA18579, NA18572, NA18534, NA18630, NA18548, NA18537, NA18626, NA18553, NA18555, NA18536, NA18570, NA18634, NA18541, NA18576, NA18546, NA18608, NA18632, NA18542, NA18535, NA18543, NA18564, NA18628, NA18615, NA18610, NA18631, NA18636, NA18609, NA18624, NA18612, NA18549, NA18622, NA18562, NA18577, NA18620
Known GenesFAM86B3P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676673
Frequency
Sample Size1151
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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