A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715488



Internal ID10299124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2035190..2035936hg38UCSC Ensembl
Outerchr17:1938484..1939230hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932570, essv6936884, essv6971512, essv6816001, essv6843126, essv6777655, essv6741590, essv6858186, essv6877155, essv6888519, essv6688805, essv6966842, essv6784250, essv6668519, essv6792529, essv6920886, essv6682184, essv6768988, essv6728926, essv6665737, essv6803948, essv6953941, essv6824268, essv6913254, essv6691454, essv6732795, essv6960369, essv6699171, essv6867946, essv6717450, essv6905505, essv6949759, essv6772732, essv6780089, essv6901895, essv6806844, essv6713569, essv6796707, essv6846434
SamplesSSM008, SSM071, SSM027, SSM024, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM013, SSM073, SSM074, SSM042, SSM028, SSM092, SSM084, SSM021, SSM047, SSM029, SSM096, SSM026, SSM089, SSM017, SSM035, SSM067, SSM033, SSM085, SSM068, SSM020, SSM015, SSM005, SSM077, SSM070, SSM025, SSM043, SSM052, SSM030, SSM012
Known GenesDPH1
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)esv2715488
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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