A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872948



Internal ID9922450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32916369..33093709hg38UCSC Ensembl
Outerchr7:32955981..33133321hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38177341
hg19177341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734229, esv2734221, esv2734226
Supporting Variants
SamplesSSM091
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)essv6872948
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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