A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733599



Internal ID10317235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170253003..170253668hg38UCSC Ensembl
Outerchr6:170562091..170562756hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38666
hg19666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814486, essv6805577, essv6770994, essv6731046, essv6889443, essv6723407, essv6808562, essv6975100, essv6712007, essv6903875, essv6782387, essv6849388, essv6855479, essv6934921, essv6790692, essv6969556, essv6923238, essv6930163, essv6919019, essv6830334, essv6930627
SamplesSSM075, SSM045, SSM065, SSM087, SSM013, SSM074, SSM042, SSM028, SSM021, SSM047, SSM018, SSM029, SSM017, SSM003, SSM086, SSM068, SSM081, SSM020, SSM077, SSM070, SSM012
Known Genes
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)esv2733599
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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