A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716312



Internal ID9950600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78475920..78476632hg38UCSC Ensembl
Outerchr17:76472002..76472714hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717550, essv6880010, essv6913007, essv6713646, essv6715399, essv6776402, essv6732882, essv6858315, essv6674337, essv6721403, essv6703217, essv6846505, essv6741659, essv6901977, essv6665905, essv6801008, essv6796791, essv6945788, essv6852346, essv6932668, essv6792619
SamplesSSM086, SSM006, SSM042, SSM043, SSM031, SSM072, SSM020, SSM071, SSM039, SSM012, SSM093, SSM085, SSM066, SSM029, SSM047, SSM002, SSM087, SSM023, SSM052, SSM044, SSM070
Known GenesDNAH17
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)esv2716312
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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