A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739651



Internal ID10323287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:93656668..93657321hg38UCSC Ensembl
Outerchr10:95416425..95417078hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906795, essv6791560, essv6763218, essv6862053, essv6896776
SamplesSSM088, SSM002, SSM062, SSM070, SSM012
Known GenesPDE6C
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)esv2739651
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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