A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728138



Internal ID9962451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:110565922..110650718hg38UCSC Ensembl
Outerchr4:111487078..111571874hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3884797
hg1984797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865061, essv6690048, essv6889795, essv6848416, essv6781779, essv6813944, essv6722840, essv6962966, essv6973964, essv6907042, essv6704623, essv6670402, essv6700569, essv6854555, essv6899340, essv6711447, essv6686882, essv6855265, essv6884276, essv6825947, essv6777752, essv6956256, essv6708028, essv6951466, essv6851797, essv6848415, essv6790075, essv6817647, essv6860274, essv6726715
SamplesSSM100, SSM036, SSM027, SSM045, SSM046, SSM011, SSM087, SSM097, SSM039, SSM042, SSM088, SSM002, SSM041, SSM029, SSM026, SSM089, SSM035, SSM031, SSM067, SSM014, SSM086, SSM068, SSM040, SSM078, SSM080, SSM077, SSM070, SSM025, SSM012
Known GenesPITX2
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)esv2728138
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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