A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736216



Internal ID10319852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1297920..1298083hg38UCSC Ensembl
Outerchr8:1246176..1246342hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38164
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1183e201
Supporting Variantsessv6957989, essv6923604, essv6850057, essv6765843, essv6799470, essv6822947, essv6690989, essv6712378, essv6708916, essv6964634, essv6814825, essv6716096, essv6727668, essv6856085
SamplesSSM036, SSM008, SSM027, SSM046, SSM079, SSM087, SSM042, SSM041, SSM018, SSM026, SSM086, SSM072, SSM077, SSM043
Known GenesLOC286083
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2736216
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer