A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732042



Internal ID9966360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47663578..47664005hg38UCSC Ensembl
Outerchr6:47631314..47631741hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6697921, essv6918845, essv6719449, essv6911356, essv6671125, essv6833802, essv6923090, essv6826426, essv6711857, essv6822449, essv6951923, essv6730902, essv6676586, essv6963750, essv6939030, essv6705046, essv6930453, essv6786413, essv6957028, essv6943452, essv6694172, essv6715542, essv6727130, essv6805450, essv6830191, essv6790528, essv6841273, essv6782231, essv6928740
SamplesSSM027, SSM046, SSM079, SSM038, SSM074, SSM042, SSM023, SSM084, SSM047, SSM018, SSM069, SSM026, SSM017, SSM032, SSM003, SSM031, SSM044, SSM068, SSM081, SSM040, SSM082, SSM020, SSM015, SSM080, SSM037, SSM022, SSM070, SSM025, SSM043
Known GenesGPR111
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)esv2732042
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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