A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727979



Internal ID10311615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:92471917..92472242hg38UCSC Ensembl
Outerchr4:93393068..93393393hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907005, essv6774222, essv6865035, essv6686863, essv6675209, essv6822013, essv6726691, essv6718961, essv6700541, essv6683582, essv6790057, essv6813929, essv6817608, essv6881080, essv6670360, essv6808058, essv6854520, essv6708010, essv6930002, essv6922636
SamplesSSM075, SSM046, SSM079, SSM087, SSM039, SSM041, SSM018, SSM089, SSM035, SSM094, SSM031, SSM044, SSM014, SSM066, SSM020, SSM078, SSM005, SSM077, SSM070, SSM034
Known GenesGRID2
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)esv2727979
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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