A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848199



Internal ID10246860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7230806..7230862hg38UCSC Ensembl
Outerchr4:7232533..7232589hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727030, esv2727032
Supporting Variants
SamplesSSM086
Known GenesSORCS2
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)essv6848199
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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