A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735234



Internal ID9969564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139865575..139865687hg38UCSC Ensembl
Outerchr7:139565374..139565486hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849703
SamplesSSM086
Known GenesTBXAS1
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)esv2735234
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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