A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716060



Internal ID10299696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:56220267..56221736hg38UCSC Ensembl
Outerchr17:54297628..54299097hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381470
hg191470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945755, essv6758682, essv6885543, essv6769047, essv6811632, essv6776370, essv6778243, essv6895282, essv6905569, essv6858281, essv6843193, essv6717528, essv6925021, essv6743743, essv6976984, essv6762930, essv6692195, essv6696314, essv6728999, essv6691865, essv6932637, essv6839686, essv6936947, essv6761459, essv6949830, essv6920961, essv6772790, essv6788504, essv6747321, essv6703193, essv6732858, essv6960461, essv6721383, essv6901956, essv6665860
SamplesSSM059, SSM036, SSM008, SSM024, SSM046, SSM064, SSM065, SSM087, SSM039, SSM013, SSM009, SSM023, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM017, SSM044, SSM001, SSM066, SSM020, SSM007, SSM005, SSM037, SSM010, SSM055, SSM095, SSM004, SSM043, SSM098, SSM012
Known GenesANKFN1
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)esv2716060
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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