A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736548



Internal ID9970880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6933382..6940684hg38UCSC Ensembl
Outerchr8:6790904..6798206hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387303
hg197303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1199e201
Supporting Variantsessv6919482, essv6731459, essv6716123, essv6866299, essv6799502, essv6894059, essv6800454, essv6701717, essv6958049, essv6958050, essv6795301, essv6805885, essv6964675, essv6879025, essv6850104, essv6705613, essv6818886, essv6746348, essv6850105, essv6845435, essv6803012, essv6923629, essv6749189
SamplesSSM071, SSM027, SSM039, SSM009, SSM073, SSM093, SSM074, SSM047, SSM018, SSM026, SSM089, SSM017, SSM086, SSM085, SSM040, SSM072, SSM078, SSM055, SSM043, SSM098, SSM056
Known GenesDEFA4
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)esv2736548
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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