A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734171



Internal ID10317807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:27698429..27700828hg38UCSC Ensembl
Outerchr7:27738048..27740447hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975202, essv6786644
SamplesSSM069, SSM029
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)esv2734171
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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