A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717969



Internal ID10301605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3807742..3808413hg38UCSC Ensembl
Outerchr19:3807740..3808411hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947207, essv6901355, essv6841276
SamplesSSM100, SSM003, SSM010
Known GenesZFR2
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)esv2717969
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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