A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716259



Internal ID9950547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76706172..76706350hg38UCSC Ensembl
Outerchr17:74702254..74702432hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882841, essv6960498
SamplesSSM094, SSM026
Known GenesMXRA7
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)esv2716259
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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