A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717950



Internal ID9952241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3605409..3606043hg38UCSC Ensembl
Outerchr19:3605407..3606041hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784604, essv6913618, essv6839612, essv6674736, essv6780464, essv6852738, essv6925315, essv6941380, essv6883028, essv6769229, essv6810106, essv6967409, essv6937269, essv6843478, essv6780921, essv6733125, essv6801269, essv6832247, essv6947185, essv6858681, essv6792879, essv6902188, essv6666360, essv6696648, essv6706981, essv6703492, essv6828686, essv6725461, essv6917072, essv6835829, essv6954303, essv6921289
SamplesSSM022, SSM027, SSM082, SSM086, SSM084, SSM040, SSM064, SSM031, SSM025, SSM072, SSM016, SSM039, SSM045, SSM067, SSM094, SSM083, SSM012, SSM017, SSM029, SSM003, SSM047, SSM021, SSM037, SSM087, SSM068, SSM075, SSM015, SSM008, SSM018, SSM081, SSM070, SSM080
Known GenesTBXA2R
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)esv2717950
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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