A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694436



Internal ID9760995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29002869..29003033hg38UCSC Ensembl
Outerchr7:29042485..29042649hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734179, esv2734180
Supporting Variants
SamplesSSM037
Known GenesCPVL, LOC100506497
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)essv6694436
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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