A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732071



Internal ID9966389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51652518..51652865hg38UCSC Ensembl
Outerchr6:51517316..51517663hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6826429, essv6849158, essv6818239, essv6890236, essv6727132, essv6837449, essv6794669, essv6671131, essv6893549, essv6798881, essv6676589, essv6860886, essv6786418, essv6974803, essv6899721, essv6830193, essv6782233, essv6822453, essv6865608, essv6808438, essv6907582, essv6930456, essv6957034, essv6687259, essv6928773, essv6855248, essv6963756, essv6778218, essv6855354, essv6701097
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM031, SSM035, SSM072, SSM020, SSM071, SSM032, SSM039, SSM067, SSM083, SSM097, SSM100, SSM011, SSM029, SSM003, SSM069, SSM087, SSM046, SSM079, SSM068, SSM075, SSM026, SSM014, SSM098, SSM081, SSM080
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)esv2732071
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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