A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872963



Internal ID9922464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56767249..56767433hg38UCSC Ensembl
Outerchr7:56834942..56835126hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734471, esv2734448, esv2734468
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)essv6872963
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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