A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718433



Internal ID10302069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30129955..30131545hg38UCSC Ensembl
Outerchr19:30620862..30622452hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381591
hg191591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928793, essv6961010, essv6776679, essv6761667, essv6733178, essv6666457, essv6801320, essv6921354, essv6898379, essv6925359, essv6874409, essv6756335, essv6814399, essv6901393, essv6941435, essv6750391, essv6843541, essv6913683, essv6950191, essv6858779, essv6814410, essv6946135
SamplesSSM100, SSM024, SSM011, SSM087, SSM009, SSM023, SSM058, SSM084, SSM047, SSM018, SSM061, SSM029, 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)esv2718433
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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