A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736914



Internal ID9971247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40601391..40601919hg38UCSC Ensembl
Outerchr8:40458910..40459438hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771441, essv6931143, essv6893488, essv6672083, essv6970082, essv6778829, essv6866336, essv6944183, essv6881874, essv6908228, essv6838021, essv6884672, essv6856186, essv6939679, essv6890735, essv6830520, essv6749217, essv6952575, essv6876202, essv6746373, essv6712436, essv6701756, essv6740519, essv6933830, essv6870272, essv6800798, essv6964723, essv6860520
SamplesSSM010, SSM065, SSM022, SSM027, SSM092, SSM055, SSM042, SSM089, SSM090, SSM031, SSM025, SSM020, SSM039, SSM067, SSM094, SSM083, SSM097, SSM012, SSM056, SSM009, SSM011, SSM028, SSM003, SSM095, SSM087, SSM023, SSM052, SSM014
Known GenesZMAT4
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)esv2736914
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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