A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735240



Internal ID9969570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140035978..140036159hg38UCSC Ensembl
Outerchr7:139735778..139735959hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814652, essv6904056, essv6855769
SamplesSSM087, SSM013, SSM077
Known GenesPARP12
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)esv2735240
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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