A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727925



Internal ID9962237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:85739612..85739915hg38UCSC Ensembl
Outerchr4:86660765..86661068hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860236, essv6956208, essv6973925, essv6683574, essv6906997, essv6865027, essv6676062, essv6851498, essv6700533, essv6822008, essv6878262, essv6817593, essv6794196, essv6962919, essv6785938, essv6854509, essv6893076, essv6670350, essv6686857, essv6848373, essv6889764
SamplesSSM071, SSM027, SSM011, SSM079, SSM087, SSM097, SSM039, SSM093, SSM088, SSM069, SSM029, SSM026, SSM089, SSM035, SSM032, SSM031, SSM014, SSM086, SSM078, SSM034, SSM098
Known GenesARHGAP24
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)esv2727925
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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