A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716246



Internal ID9950534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75802672..75803138hg38UCSC Ensembl
Outerchr17:73798753..73799219hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715354, essv6820511, essv6721397, essv6868038, essv6692209, essv6824338, essv6703211, essv6710086, essv6776394, essv6920981, essv6932661, essv6784337, essv6905583, essv6696335, essv6852335, essv6665892, essv6960495, essv6816062, essv6806906
SamplesSSM013, SSM086, SSM006, SSM036, SSM078, SSM089, SSM020, SSM039, SSM041, SSM077, SSM017, SSM066, SSM029, SSM037, SSM079, SSM068, SSM044, SSM074, SSM026
Known GenesUNK
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)esv2716246
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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