A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927019



Internal ID9689714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29002981..29003164hg38UCSC Ensembl
Outerchr7:29042597..29042780hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734179, esv2734181
Supporting Variants
SamplesSSM019
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)essv6927019
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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