A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733227



Internal ID9967550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167243689..167244686hg38UCSC Ensembl
Outerchr6:167657177..167658174hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6896869, essv6923210, essv6872884, essv6808544, essv6963959, essv6805553, essv6855433, essv6740122, essv6729909, essv6907734, essv6827131, essv6975038, essv6698024, essv6934875, essv6790652, essv6751717, essv6767648, essv6830313, essv6760160, essv6962551, essv6903849, essv6887123, essv6811429
SamplesSSM027, SSM075, SSM064, SSM087, SSM038, SSM013, SSM074, SSM057, SSM021, SSM018, SSM061, SSM029, SSM096, SSM014, SSM081, SSM007, SSM076, SSM010, SSM091, SSM070, SSM004, SSM099, SSM052
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)esv2733227
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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