A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6774767



Internal ID10180773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2493615..2494268hg38UCSC Ensembl
Outerchr7:2533249..2533902hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733853, esv2733854
Supporting Variants
SamplesSSM066
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)essv6774767
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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