A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849696



Internal ID10248209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:136894336..136903703hg38UCSC Ensembl
Outerchr7:136579083..136588450hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg389368
hg199368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735202
Supporting Variants
SamplesSSM086
Known GenesCHRM2, LOC349160, MIR490
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)essv6849696
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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