A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718664



Internal ID9952956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47489904..47490848hg38UCSC Ensembl
Outerchr19:47993161..47994105hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874477, essv6707058, essv6781887, essv6801340, essv6797150, essv6858806, essv6773163, essv6682588, essv6814732, essv6696731, essv6902273, essv6721708, essv6928815, essv6921401, essv6905867, essv6703580, essv6846758, essv6947974, essv6961043, essv6937363, essv6666502, essv6967522, essv6843570, essv6925391, essv6971967, essv6950216, essv6832316, essv6932988, essv6668747, essv6784683, essv6792964, essv6954393, essv6895592, essv6674833, essv6852839, essv6717878, essv6780528
SamplesSSM008, SSM071, SSM027, SSM024, SSM065, SSM087, SSM039, SSM013, SSM009, SSM028, SSM084, SSM021, SSM018, SSM029, SSM026, SSM017, SSM019, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM037, SSM091, SSM070, SSM025, SSM043, SSM098, SSM030, SSM012
Known GenesNAPA, NAPA-AS1
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)esv2718664
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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