A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735673



Internal ID10319309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157264203..157264630hg38UCSC Ensembl
Outerchr7:157056897..157057324hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6727541, essv6782627, essv6790950
SamplesSSM046, SSM068, SSM070
Known GenesUBE3C
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)esv2735673
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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