A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734289



Internal ID10317925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38468858..38469182hg38UCSC Ensembl
Outerchr7:38508458..38508782hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790761, essv6687449, essv6818507, essv6896919, essv6890398, essv6705251, essv6855595, essv6861150, essv6808609, essv6865864, essv6964131, essv6786662, essv6893739, essv6856932, essv6778446, essv6671485, essv6849497, essv6907811, essv6939279, essv6811493, essv6975224
SamplesSSM027, SSM075, SSM011, SSM087, SSM097, SSM088, SSM069, SSM029, SSM089, SSM035, SSM031, SSM067, SSM014, SSM086, SSM040, SSM078, SSM076, SSM022, SSM070, SSM099, SSM098
Known GenesAMPH
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)esv2734289
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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