A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873078



Internal ID10269252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142756482..142756898hg38UCSC Ensembl
Outerchr7:142464329..142464745hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735272, esv2735271
Supporting Variants
SamplesSSM091
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)essv6873078
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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