A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735922



Internal ID10319558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158330011..158331082hg38UCSC Ensembl
Outerchr7:158122703..158123774hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381072
hg191072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6881750, essv6878926, essv6771250, essv6830589, essv6719853, essv6790976, essv6822839, essv6671771, essv6834181, essv6731297, essv6731299, essv6723670, essv6782653, essv6930916, essv6939469, essv6719855, essv6893935, essv6837859, essv6975564, essv6826860, essv6701550, essv6952358, essv6786873, essv6701549, essv6915446, essv6927219, essv6893934, essv6799340
SamplesSSM083, SSM045, SSM079, SSM065, SSM039, SSM093, SSM047, SSM069, SSM029, SSM019, SSM094, SSM031, SSM044, SSM068, SSM081, SSM072, SSM082, SSM020, SSM016, SSM080, SSM022, SSM070, SSM025, SSM098
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)esv2735922
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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