A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735923



Internal ID10319559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158330165..158341154hg38UCSC Ensembl
Outerchr7:158122857..158133846hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3810990
hg1910990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1162e201
Supporting Variantsessv6919327, essv6957743, essv6975567, essv6969864, essv6684381, essv6911751, essv6887369, essv6719856, essv6876066, essv6919328, essv6932339, essv6935199, essv6771251, essv6837861, essv6975565, essv6975564, essv6740355, essv6935198, essv6964795, essv6814715, essv6975566, essv6681933
SamplesSSM083, SSM065, SSM028, SSM092, SSM021, SSM029, SSM096, SSM026, SSM017, SSM003, SSM044, SSM015, SSM005, SSM077, SSM034, SSM004, SSM052
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)esv2735923
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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