A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718550



Internal ID10302186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39196272..39197016hg38UCSC Ensembl
Outerchr19:39686912..39687656hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6909798, essv6921372, essv6781721, essv6863625, essv6961022, essv6905853, essv6937343, essv6902258, essv6773145, essv6692468, essv6733187, essv6668737, essv6717851, essv6814554, essv6971950
SamplesSSM036, SSM008, SSM065, SSM013, SSM009, SSM088, SSM028, SSM021, SSM047, SSM026, SSM017, SSM014, SSM043, SSM030, SSM012
Known GenesNCCRP1
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)esv2718550
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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