A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv843e201



Internal ID22760201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68569012..68676450hg38UCSC Ensembl
chr4:69434730..69542168hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38107439
hg19107439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743068, esv2741536, esv2741056, esv2741954, esv2742332, esv2741172, esv2742436, esv2742788, esv2742286, esv2741242, esv2743067, esv2742463, esv2742505, esv2742314, esv2742954, esv2740734, esv2740997, esv2740767
SamplesSSM046, SSM093, SSM074, SSM002, SSM041, SSM023, SSM090, SSM061, SSM031, SSM044, SSM086, SSM006, SSM085, SSM020, SSM016, SSM091, SSM030
Known GenesUGT2B15
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)dgv843e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer