A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849479



Internal ID9901327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32762314..32762399hg38UCSC Ensembl
Outerchr7:32801926..32802011hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734223, esv2734221, esv2734224
Supporting Variants
SamplesSSM086
Known GenesLINC00997
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)essv6849479
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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