A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6767228



Internal ID10175330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:158651725..158670813hg38UCSC Ensembl
Outerchr4:159572877..159591965hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3819089
hg1919089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728610
Supporting Variants
SamplesSSM064
Known GenesC4orf46, RXFP1
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)essv6767228
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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