A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735142



Internal ID9969472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128603359..128603563hg38UCSC Ensembl
Outerchr7:128243413..128243617hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907943, essv6911665
SamplesSSM014, SSM015
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)esv2735142
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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