A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6826769



Internal ID10227574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137149720..137149996hg38UCSC Ensembl
Outerchr7:136834467..136834743hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735203
Supporting Variants
SamplesSSM080
Known GenesLOC349160
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)essv6826769
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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