A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734470



Internal ID9968797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56729853..56730164hg38UCSC Ensembl
Outerchr7:56797546..56797857hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857109, essv6719674, essv6869970, essv6782469, essv6827832, essv6708655
SamplesSSM011, SSM041, SSM090, SSM044, SSM068, SSM010
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)esv2734470
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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