A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735930



Internal ID10319566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158332240..158332381hg38UCSC Ensembl
Outerchr7:158124932..158125073hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957743, essv6887369, essv6814715
SamplesSSM096, SSM026, SSM077
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)esv2735930
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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