A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718434



Internal ID10302070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30130384..30131280hg38UCSC Ensembl
Outerchr19:30621291..30622187hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928793, essv6961010, essv6776679, essv6761667, essv6733178, essv6801320, essv6921354, essv6898379, essv6925359, essv6874409, essv6756335, essv6814399, essv6901393, essv6941435, essv6750391, essv6843541, essv6913683, essv6950191, essv6858779, essv6946135
SamplesSSM100, SSM024, SSM011, SSM087, SSM009, SSM023, SSM058, SSM084, SSM047, SSM018, SSM061, SSM026, SSM017, SSM019, SSM066, SSM072, SSM015, SSM022, SSM099, SSM056
Known Genes
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)esv2718434
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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