A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716237



Internal ID9950525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75276473..75276905hg38UCSC Ensembl
Outerchr17:73272554..73272986hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6747335, essv6905582, essv6895297, essv6804013, essv6769062, essv6901970, essv6738390, essv6941120, essv6960492, essv6977073
SamplesSSM022, SSM013, SSM055, SSM064, SSM050, SSM012, SSM073, SSM004, SSM026, SSM098
Known GenesSLC25A19
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)esv2716237
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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