A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716213



Internal ID9950501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74301758..74302168hg38UCSC Ensembl
Outerchr17:72297897..72298307hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966970, essv6665886, essv6828414, essv6674322, essv6820506, essv6852326, essv6863223, essv6710084, essv6674323, essv6816059, essv6891860, essv6852327, essv6715343, essv6874192, essv6846497, essv6880003, essv6735628
SamplesSSM027, SSM086, SSM006, SSM091, SSM078, SSM088, SSM031, SSM097, SSM041, SSM077, SSM093, SSM085, SSM029, SSM049, SSM080
Known GenesDNAI2
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)esv2716213
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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