A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6795126



Internal ID10200817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158334565..158341150hg38UCSC Ensembl
Outerchr7:158127257..158133842hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg386586
hg196586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735925, esv2735934, esv2735942, esv2735936, esv2735940, esv2735932
Supporting Variants
SamplesSSM071
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)essv6795126
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer