A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6782562



Internal ID10187455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142309942..142343584hg38UCSC Ensembl
Outerchr7:142009765..142043414hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3833643
hg1933650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735257
Supporting Variants
SamplesSSM068
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)essv6782562
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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