A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735941



Internal ID10319577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158334417..158336964hg38UCSC Ensembl
Outerchr7:158127109..158129656hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg382548
hg192548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1164e201
Supporting Variantsessv6919327, essv6799341, essv6884551, essv6855864, essv6834185, essv6915448, essv6715961, essv6870129, essv6778659, essv6790979, essv6849818
SamplesSSM087, SSM090, SSM017, SSM067, SSM086, SSM072, SSM082, SSM016, SSM070, SSM095, SSM043
Known GenesPTPRN2
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)esv2735941
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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