A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737610



Internal ID10321246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:134182047..134183887hg38UCSC Ensembl
Outerchr8:135194290..135196130hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381841
hg191841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755095, essv6894043, essv6830965, essv6801410, essv6970147, essv6808953, essv6760577, essv6927436, essv6723938, essv6694934, essv6838084, essv6912019, essv6887572, essv6698384, essv6743628, essv6734188, essv6778891, essv6976086, essv6952638, essv6935474, essv6939749, essv6687488, essv6672211, essv6709032, essv6958256, essv6861265, essv6856304, essv6795430, essv6707821
SamplesSSM083, SSM071, SSM075, SSM045, SSM011, SSM087, SSM038, SSM009, SSM041, SSM058, SSM028, SSM021, SSM061, SSM029, SSM096, SSM026, SSM019, SSM031, SSM067, SSM001, SSM006, SSM007, SSM015, SSM053, SSM037, SSM022, SSM010, SSM025, SSM012
Known Genes
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)esv2737610
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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