A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733570



Internal ID10317206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170155088..170155536hg38UCSC Ensembl
Outerchr6:170470312..170470760hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964012, essv6786575, essv6957309, essv6712002, essv6794833, essv6731040, essv6890348, essv6680558, essv6964011
SamplesSSM071, SSM027, SSM097, SSM042, SSM047, SSM069, SSM026, SSM033
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)esv2733570
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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