A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732072



Internal ID9966390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51871285..51872005hg38UCSC Ensembl
Outerchr6:51736083..51736803hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38721
hg19721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911358, essv6872776, essv6896780, essv6969392, essv6805452, essv6767553, essv6928784, essv6891487, essv6743187, essv6826198, essv6687260, essv6778219, essv6684004, essv6708460, essv6865609
SamplesSSM064, SSM074, SSM002, SSM041, SSM028, SSM089, SSM035, SSM003, SSM067, SSM015, SSM053, SSM010, SSM091, SSM034, SSM099
Known GenesPKHD1
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)esv2732072
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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