A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734225



Internal ID9968552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32771427..32771871hg38UCSC Ensembl
Outerchr7:32811039..32811483hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6680613
SamplesSSM033
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)esv2734225
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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