A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730136



Internal ID9964452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42628286..42631063hg38UCSC Ensembl
Outerchr5:42628388..42631165hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382778
hg192778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869516, essv6853376, essv6860521, essv6767332, essv6822235, essv6708201, essv6947583, essv6798604, essv6868709, essv6969128, essv6889978, essv6759830, essv6790286, essv6951655, essv6697758, essv6805225, essv6730659, essv6865302, essv6896588, essv6938772, essv6734197, essv6814117, essv6715300, essv6680196, essv6811111, essv6881226, essv6757226, essv6683796, essv6736785
SamplesSSM022, SSM033, SSM061, SSM099, SSM043, SSM088, SSM089, SSM090, SSM064, SSM025, SSM072, SSM024, SSM094, SSM050, SSM097, SSM041, SSM077, SSM011, SSM028, SSM047, SSM002, SSM034, SSM038, SSM079, SSM074, SSM049, SSM076, SSM059, SSM070
Known GenesGHR
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)esv2730136
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