A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6887183



Internal ID9935439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32916379..33093707hg38UCSC Ensembl
Outerchr7:32955991..33133319hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38177329
hg19177329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734229, esv2734221, esv2734226
Supporting Variants
SamplesSSM096
Known GenesFKBP9, NT5C3A, RP9P
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)essv6887183
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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